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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dwarfism (D004392)
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Microcephaly (D008831)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
Child Nodes:
Sister Nodes:
..Achondrogenesis (C579878)
..Achondroplasia (D000130) 21
..Acquired Hyperostosis Syndrome (D020083)
..Acrodysostosis (C538179)
..Acrodysplasia scoliosis (C538180)
..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..Acromesomelic dysplasia (C535658) 1
..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Akaba Hayasaka syndrome (C535609)
..Anauxetic dysplasia (C538256)
..Atelosteogenesis type 2 (C535395)
..Atelosteogenesis Type 3 (C579928)
..Atelosteogenesis, type 1 (C535396)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..Auriculoosteodysplasia (C538271)
..Boomerang dysplasia (C536573)
..Brachyolmia (C537098)
..Brachyolmia Type 2 (C563218)
..Brachyolmia Type 3 (C562963)
..Brachyolmia, recessive Hobaek type (C537099)
..Camurati-Engelmann Syndrome (D003966) 4
..Cantu syndrome (C535572)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Chondrodysplasia Calcificans Metaphysealis (C565855)
..Chondrodysplasia Punctata (D002806) 13
..Chondrodysplasia, blomstrand type (C537914)
..Chondrodysplasia, Grebe type (C537915)
..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Cleidocranial Dysplasia (D002973) 5
..Cleidorhizomelic syndrome (C536428)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..CODAS syndrome (C536434)
..Collagenopathy, type 2 alpha 1 (C535964)
..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Czech dysplasia, metatarsal type (C535766)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyschondrosteosis and Nephritis (C565080)
..Eiken Skeletal Dysplasia (C564010)
..Ellis-Van Creveld Syndrome (D004613) 6
..Enchondromatosis (D004687)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Epiphyseal Dysplasia, Baumann Type (C563664)
..Epiphyseal dysplasia, multiple, 1 (C535501)
..Epiphyseal dysplasia, multiple, 2 (C535502)
..Epiphyseal dysplasia, multiple, 3 (C535503)
..Epiphyseal dysplasia, multiple, 4 (C535504)
..Epiphyseal dysplasia, multiple, 5 (C535505)
..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..Fairbank disease (C536393)
..Faye-Petersen Ward Carey syndrome (C537076)
..Fibrous Dysplasia of Bone (D005357) 9
..Fraser Jequier Chen syndrome (C535481)
..Frontometaphyseal dysplasia (C538064)
..Frontootopalatodigital Osteodysplasia (C567578)
..Ghosal Hematodiaphyseal Dysplasia (C565551)
..HEM dysplasia (C535858) 1
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Hip Dysplasia, Beukes Type (C564185)
..Hyperostosis Frontalis Interna (D006957) 1
..Hyperostosis, Cortical, Congenital (D006958) 6
..Hypochondrogenesis (C563007)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Jansen type metaphyseal chondrodysplasia (C537564)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Kashin-Beck Disease (D057767)
..Kniest dysplasia (C537207)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Kozlowski Tsuruta Taki syndrome (C537510)
..Langer mesomelic dysplasia (C537267)
..Langer-Giedion Syndrome (D015826) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Larsen Syndrome (C580241)
..Larsen syndrome, dominant type (C537873)
..Larsen-Like Syndrome (C563914)
..Leri-Weil syndrome (C537119)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Lowry Wood syndrome (C537038)
..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..Madelung Deformity (C562398)
..Marshall syndrome (C536025)
..Megaepiphyseal dwarfism (C536140) 1
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..Mesomelic Dysplasia, Savarirayan Type (C565349)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Metaphyseal chondrodysplasia Schmid type (C537352)
..Metaphyseal chondrodysplasia Spahr type (C537353)
..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
..Metaphyseal Chondrodysplasia, Pena Type (C565399)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..Metaphyseal Dysplasia without Hypotrichosis (C563574)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..Metatropic dwarfism (C537356)
..Metatropic Dwarfism, Type II (C581628)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephaly-Micromelia Syndrome (C565382)
..Micromelic dwarfism Fryns type (C537556)
..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Nievergelt syndrome (C536120)
..Nivelon Nivelon Mabille syndrome (C536123)
..Omodysplasia 2 (C567664)
..Omodysplasia type 1 (C537746)
..Opsismodysplasia (C537122)
..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..Osteoarthritis with Mild Chondrodysplasia (C565740)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Osteochondroma (D015831) 17
..Osteodysplasia, Familial, Anderson Type (C564923)
..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..Osteogenesis Imperfecta (D010013) 27
..Osteoglophonic dwarfism (C536050)
..Osteosclerosis (D010026) 36
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..Pelvis-Shoulder Dysplasia (C566811)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..Polydysspondyly (C565150)
..Pubic Bone Dysplasia (C566735)
..Pycnodysostosis (D058631)
..Pyle disease (C536252)
..Roifman syndrome (C535866)
..Schaefer Stein Oshman syndrome (C536627)
..Schimke immunoosseous dysplasia (C536629)
..Schneckenbecken dysplasia (C536637)
..Short Rib-Polydactyly Syndrome (D012779) 3
..Short stature syndrome, Brussels type (C537121)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Slipped Capital Femoral Epiphyses (D060048)
..Smith-McCort Dysplasia (C564589)
..Spinal Dysplasia, Anhalt Type (C563348)
..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..Spondylodysplasia And Premature Pubarche (C567552)
..Spondyloenchondrodysplasia (C535782)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Spondyloepiphyseal dysplasia, congenita (C535788)
..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Spondyloepiphyseal dysplasia, Omani type (C535789) 1
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..Spondylometaphyseal dysplasia, Algerian type (C535794)
..Spondylometaphyseal dysplasia, axial (C535795)
..Spondylometaphyseal dysplasia, east-African type (C535796)
..Spondylometaphyseal dysplasia, Kozlowski type (C535797)
..Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
..Spondylometaphyseal Dysplasia, Type A4 (C563803)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..Spondyloperipheral dysplasia short ulna (C535799)
..Spondylospinal Thoracic Dysostosis (C566622)
..Strudwick syndrome (C537501)
..Stuve-Wiedemann syndrome (C537502)
..Teebi Naguib Al Awadi syndrome (C536949)
..Ter Haar syndrome (C537274)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thoracolaryngopelvic dysplasia (C536517)
..Tracheobronchopathia osteoplastica (C536977)
..Trichoscyphodysplasia (C536557)
..Ulna metaphyseal dysplasia syndrome (C536935)
..Upington disease (C536472)
..Van Buchem disease type 2 (C536527)
..Verloes Bourguignon syndrome (C536538)
..Verloes Van Maldergem Marneffe syndrome (C536540)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Wolcott-Rallison syndrome (C536739)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7165

Name:

Microcephalic osteodysplastic primordial dwarfism, type 1

Definition:

Alternative IDs:

OMIM:210710

ParentIDs:

MESH:D004392|MESH:D005317|MESH:D008831|MESH:D010009

TreeNumbers:

C05.116.099.343/C537577 |C05.116.099.708/C537577 |C05.660.207.620/C537577 |C10.500.507.400.500/C537577 |C13.703.277.370/C537577 |C16.131.621.207.620/C537577 |C16.131.666.507.400.500/C537577 |C16.300.390/C537577 |C16.320.240/C537577 |C19.297/C537577 |C23.550.393.45

Synonyms:

Slim Mappings:

Reference:

MedGen: C537577
MeSH: C537577
OMIM: 210710;

Genes: RNU4ATAC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000878	11 pairs of ribs
3	HP:0000377	Abnormality of the pinna
4	HP:0006400	Absent knee epiphyses
5	HP:0002335	Agenesis of cerebellar vermis
6	HP:0001274	Agenesis of corpus callosum
7	HP:0001631	Atrial septal defect
8	HP:0003865	Bowed humerus
9	HP:0001156	Brachydactyly
10	HP:0004616	Cleft vertebral arch
11	HP:0001680	Coarctation of aorta
12	HP:0000028	Cryptorchidism
13	HP:0002750	Delayed skeletal maturation
14	HP:0003498	Disproportionate short stature
15	HP:0000958	Dry skin
16	HP:0003042	Elbow dislocation
17	HP:0002987	Elbow flexion contracture
18	HP:0003051	Enlarged metaphyses
19	HP:0001508	Failure to thrive
20	HP:0002980	Femoral bowing
21	HP:0002282	Gray matter heterotopia
22	HP:0003273	Hip contracture
23	HP:0002827	Hip dislocation
24	HP:0000962	Hyperkeratosis
25	HP:0007333	Hypoplasia of the frontal lobes
26	HP:0000946	Hypoplastic ilia
27	HP:0001249	Intellectual disability
28	HP:0001511	Intrauterine growth retardation
29	HP:0006380	Knee flexion contracture
30	HP:0001176	Large hands
31	HP:0009826	Limb undergrowth
32	HP:0000890	Long clavicles
33	HP:0001833	Long foot
34	HP:0000369	Low-set ears
35	HP:0000252	Microcephaly
36	HP:0000347	Micrognathia
37	HP:0002983	Micromelia
38	HP:0000054	Micropenis
39	HP:0008551	Microtia
40	HP:0001562	Oligohydramnios
41	HP:0001302	Pachygyria
42	HP:0000926	Platyspondyly
43	HP:0006579	Prolonged neonatal jaundice
44	HP:0000448	Prominent nose
45	HP:0000269	Prominent occiput
46	HP:0000520	Proptosis
47	HP:0000107	Renal cyst
48	HP:0000089	Renal hypoplasia
49	HP:0001250	Seizure
50	HP:0003097	Short femur
51	HP:0005792	Short humerus
52	HP:0010049	Short metacarpal
53	HP:0000470	Short neck
54	HP:0003044	Shoulder flexion contracture
55	HP:0000954	Single transverse palmar crease
56	HP:0000340	Sloping forehead
57	HP:0000237	Small anterior fontanelle
58	HP:0000535	Sparse and thin eyebrow
59	HP:0000653	Sparse eyelashes
60	HP:0002209	Sparse scalp hair
61	HP:0003826	Stillbirth
62	HP:0001636	Tetralogy of Fallot

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NR_023343.1(RNU4ATAC):r.30G>A	-1	-	Pathogenic	374299350	RCV000023098;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288485	122288485	-	-	NC_000002.11:g.122288485G>A	OMIM Allelic Variant:601428.0003	C1859452 210710 Osteodysplastic primordial dwarfism, type 1
NM_001142273.1(CLASP1):c.196-604C>G	-1	-	Pathogenic	181195449	RCV000023100;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288505	122288505	-	-	NC_000002.11:g.122288505G>A,NC_000002.11:g.122288505G>C	OMIM Allelic Variant:601428.0005	C1859452 210710 Osteodysplastic primordial dwarfism, type 1
NM_001142273.1(CLASP1):c.196-604C>T	-1	-	Pathogenic	181195449	RCV000023102;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288505	122288505	-	-	NC_000002.11:g.122288505G>A,NC_000002.11:g.122288505G>C	OMIM Allelic Variant:601428.0007	C1859452 210710 Osteodysplastic primordial dwarfism, type 1
NM_001142273.1(CLASP1):c.196-605C>T	-1	-	Pathogenic	188343279	RCV000023096; RCV000202312;	N	Gene:57788,MedGen:C1846059,OMIM:616651,ORPHA:353298; MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288506	122288506	-	-	NC_000002.11:g.122288506G>A	OMIM Allelic Variant:601428.0001	C1859452 210710 Osteodysplastic primordial dwarfism, type 1; C1846059 616651 Roifman syndrome
NM_001142273.1(CLASP1):c.196-607G>C	-1	-	Pathogenic	180755563	RCV000023101;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288508	122288508	-	-	NC_000002.11:g.122288508C>G	OMIM Allelic Variant:601428.0006	C1859452 210710 Osteodysplastic primordial dwarfism, type 1
NM_001142273.1(CLASP1):c.196-609C>T	-1	-	Pathogenic	575472572	RCV000023097;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288510	122288510	-	-	NC_000002.11:g.122288510G>A	OMIM Allelic Variant:601428.0002	C1859452 210710 Osteodysplastic primordial dwarfism, type 1
NM_001142273.1(CLASP1):c.196-620C>G	-1	-	Pathogenic	377619732	RCV000032637;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288521	122288521	-	-	NC_000002.11:g.122288521G>C	OMIM Allelic Variant:601428.0008	C1859452 210710 Osteodysplastic primordial dwarfism, type 1
NM_001142273.1(CLASP1):c.196-665C>T	-1	-	Pathogenic	763500364	RCV000023099;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288566	122288566	-	-	NC_000002.11:g.122288566G>A	OMIM Allelic Variant:601428.0004	C1859452 210710 Osteodysplastic primordial dwarfism, type 1
NM_001142273.1(CLASP1):c.196-678C>T	-1	-	Pathogenic	544312701	RCV000032638;	N	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	2	122288579	122288579	-	-	NC_000002.11:g.122288579G>A	OMIM Allelic Variant:601428.0009	C1859452 210710 Osteodysplastic primordial dwarfism, type 1