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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: Bone Diseases, Developmental (D001848)
Parent Node: Limb Deformities, Congenital (D017880)
..Starting node ..Acromicric dysplasia (C535662)
Child Nodes:
........GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Sister Nodes:
..Aase Smith syndrome (C535332)
..Abruzzo Erickson syndrome (C535559)
..Acromegaloid facial appearance syndrome (C535655)
..Acromicric dysplasia (C535662) 1
..Acropectoral syndrome (C535664)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Acrorenal syndrome recessive (C535666)
..Adams Oliver syndrome (C538225)
..Arachnodactyly (D054119) 10
..Arms, Malformation of (C566258)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Bagatelle Cassidy syndrome (C537796)
..Brachydactyly (D059327) 54
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Brachyolmia, recessive Hobaek type (C537099)
..Calabro syndrome (C537960)
..Camptobrachydactyly (C537967)
..Cartwright Nelson Fryns syndrome (C535917)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..COCOON SYNDROME (OMIM:613630)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Craniomicromelic Syndrome (C566522)
..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..Ectrodactyly (C574275)
..Ectrodactyly-Polydactyly (C565601)
..Ectromelia (D004480) 22
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fetal akinesia syndrome, X-linked (C537921)
..Foot Deformities, Congenital (D005532) 78
..Freire-Maia odontotrichomelic syndrome (C535637)
..Fryns syndrome (C538070)
..Genee-Wiedemann syndrome (C537680)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hand and foot deformity with flat facies (C535626)
..Hand Deformities, Congenital (D006228) 134
..Hanhart syndrome (C535629)
..Heart defects limb shortening (C535850)
..Hypochondroplasia (C562937)
..Hypoglossia-Hypodactylia (C566308)
..Ichthyosis tapered fingers midline groove up (C536272)
..Kaplan Plauchu Fitch syndrome (C536892)
..Kaufman oculocerebrofacial syndrome (C537013)
..Krause-Kivlin syndrome (C537617)
..Kuster syndrome (C538126)
..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..Le Marec Bracq Picaud syndrome (C536997)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Limb-mammary syndrome (C535903)
..Lower Extremity Deformities, Congenital (D038061) 89
..Lynch Lee Murday syndrome (C537713)
..Megalodactyly (C562546)
..Mental retardation spasticity ectrodactyly (C537446)
..Mesomelia-synostoses syndrome (C537348)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Microphthalmia, Syndromic 6 (C566440)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Neu Laxova syndrome (C536405)
..Nievergelt syndrome (C536120)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Palant cleft palate syndrome (C538102)
..Penttinen-Aula syndrome (C536653)
..Pointer syndrome (C536323)
..Polydactyly (D017689) 61
..Postaxial Oligodactyly, Tetramelic (C566767)
..Powell Chandra Saal syndrome (C538357)
..Propping Zerres syndrome (C538052)
..Proteus Syndrome (D016715) 1
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Reardon Hall Slaney syndrome (C535294)
..Renal dysplasia - limb defects syndrome (C537754)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Robinow syndrome, autosomal recessive (C535863)
..Ruzicka Goerz Anton syndrome (C537192)
..Short Stature-Obesity Syndrome (C564821)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Split hand foot deformity (C535777) 2
..Split hand foot deformity 1 (C567893)
..Split-Hand And Split-Foot With Hypodontia (C566665)
..Split-Hand Foot Malformation 2 (C564056) 1
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Split-Hand/Foot Malformation 4 (C565344)
..Split-Hand/Foot Malformation 5 (C564674)
..Split-Hand/Foot Malformation 6 (C567616)
..Split-hand/foot malformation with long bone deficiency (C536425)
..Split-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199)
..Split-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245)
..Steinfeld Syndrome (C566655)
..Stern Lubinsky Durrie syndrome (C537488)
..Stratton-Parker Syndrome (C566105)
..Syndactyly (D013576) 69
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Tetramelic Monodactyly (C566066)
..Thanatophoric Dysplasia (D013796) 8
..Thoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..Thoraco limb dysplasia Rivera type (C536516)
..Thoracomelic Dysplasia (C564773)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Upper Extremity Deformities, Congenital (D038062) 145
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..Viljoen Kallis Voges syndrome (C536349)
..Weyers acrofacial dysostosis (C536695)
..Wright Dyck syndrome (C536749)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

205

Name:

Acromicric dysplasia

Definition:

Alternative IDs:

ParentIDs:

MESH:D001848|MESH:D017880

TreeNumbers:

C05.116.099/C535662 |C05.660.585/C535662 |C16.131.621.585/C535662

Synonyms:

Acromicric skeletal dysplasia |Geleophysic dwarfism |Geleophysic dysplasia

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C535662
MeSH: C535662
OMIM: 102370;

Genes: FBN1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000463	Anteverted nares
3	HP:0000414	Bulbous nose
4	HP:0010579	Cone-shaped epiphysis
5	HP:0002002	Deep philtrum
6	HP:0002750	Delayed skeletal maturation
7	HP:0005900	Fifth metacarpal with ulnar notch
8	HP:0001609	Hoarse voice
9	HP:0000527	Long eyelashes
10	HP:0000343	Long philtrum
11	HP:0000160	Narrow mouth
12	HP:0003300	Ovoid vertebral bodies
13	HP:0000311	Round face
14	HP:0003510	Severe short stature
15	HP:0001773	Short foot
16	HP:0003026	Short long bone
17	HP:0010049	Short metacarpal
18	HP:0004279	Short palm
19	HP:0009803	Short phalanx of finger
20	HP:0000179	Thick lower lip vermilion
21	HP:0001072	Thickened skin

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
NM_000138.4(FBN1):c.5202_5204dupACA (p.Gln1735_Cys1736insGln)	2200	FBN1	Pathogenic	587776863	RCV000022551;	N	MedGen:C0265287,OMIM:102370,ORPHA:969,SNOMED CT:254090007	15	48755299	48755301	NM_000138.4:c.5202_5204dupACA	NP_000129.3:p.Gln1735_Cys1736insGln		OMIM Allelic Variant:134797.0061	C0265287 102370 Acromicric dysplasia; C0410179 254090 Ullrich congenital muscular dystrophy
NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr)	2200	FBN1	Pathogenic	387906624	RCV000022547; RCV000022546;	N	MedGen:C0265287,OMIM:102370,ORPHA:969,SNOMED CT:254090007; MedGen:C3280054,OMIM:614185	15	48755321	48755321	NM_000138.4:c.5182G>A	NP_000129.3:p.Ala1728Thr	NC_000015.9:g.48755321C>T	OMIM Allelic Variant:134797.0057	C0265287 102370 Acromicric dysplasia; C3280054 614185 Geleophysic dysplasia 2; C0410179 254090 Ullrich congenital muscular dystrophy
NM_000138.4(FBN1):c.5099A>G (p.Tyr1700Cys)	2200	FBN1	Pathogenic	387906626	RCV000022550;	N	MedGen:C0265287,OMIM:102370,ORPHA:969,SNOMED CT:254090007	15	48755404	48755404	NM_000138.4:c.5099A>G	NP_000129.3:p.Tyr1700Cys	NC_000015.9:g.48755404T>C	OMIM Allelic Variant:134797.0060	C0265287 102370 Acromicric dysplasia; C0410179 254090 Ullrich congenital muscular dystrophy
NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys)	2200	FBN1	Pathogenic	387906622	RCV000022544; RCV000022543;	N	MedGen:C0265287,OMIM:102370,ORPHA:969,SNOMED CT:254090007; MedGen:C3280054,OMIM:614185	15	48755407	48755407	NM_000138.4:c.5096A>G	NP_000129.3:p.Tyr1699Cys	NC_000015.9:g.48755407T>C	OMIM Allelic Variant:134797.0055	C0265287 102370 Acromicric dysplasia; C3280054 614185 Geleophysic dysplasia 2; C0410179 254090 Ullrich congenital muscular dystrophy