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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: Abnormalities, Multiple (D000015)
Parent Node: Agenesis of Corpus Callosum (D061085)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Craniofacial Abnormalities (D019465)
..Starting node ..Holoprosencephaly (D016142)
Child Nodes:
........Cyclopia (C562573)
........Demyer Sequence (C567614)
........Dysgnathia complex (C537996)
........Genoa syndrome (C537684)
........Holoprosencephaly 1 (C565514)
........Holoprosencephaly 10 (C567278)
........Holoprosencephaly 2 (C563579)
........Holoprosencephaly 3 (C564181)
........Holoprosencephaly 4 (C564180)
........Holoprosencephaly 5 (C566464)
........Holoprosencephaly 6 (C565274)
........Holoprosencephaly 7 (C563660)
........Holoprosencephaly 8 (C563723)
........Holoprosencephaly 9 (C563659)
........Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
........Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
........Holoprosencephaly, recurrent infections, and monocytosis (C538328)
........Lambotte syndrome (C537549)
........Microgastria limb reduction defect (C537554)
........Nonsyndromic Holoprosencephaly (C580335)
........Pseudotrisomy 13 syndrome (C535829)
........Steinfeld Syndrome (C566655)
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..3C syndrome (C535313)
..Abidi X-linked mental retardation syndrome (C535556)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Arthrogryposis multiplex congenita whistling face (C538401)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Arthropathy, Erosive (C565273)
..Asymmetric Short Stature Syndrome (C566248)
..AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Baker Vinters syndrome (C537899)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Blepharochalasis And Double Lip (C562742)
..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
..Brachymesomelia renal syndrome (C537096)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Brachytelephalangy characteristic facies Kallmann (C537101)
..Branchial Cleft Anomalies (C562384)
..Calvarial hyperostosis (C537963)
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Cerebrofrontofacial Syndrome (C563904)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerebrooculonasal Syndrome (C565313)
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..Chromosome 18 Pericentric Inversion (C563734)
..Chromosome 2p16.1-P15 Deletion Syndrome (C567289)
..Chromosome 2q31.2 Deletion Syndrome (C567344)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cleidocranial Dysplasia (D002973) 5
..COCOON SYNDROME (OMIM:613630)
..CODAS syndrome (C536434)
..Combined Oxidative Phosphorylation Deficiency 2 (C566468)
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Costello Syndrome (D056685)
..COUSIN SYNDROME (OMIM:260660)
..Cranioacrofacial Syndrome (C565147)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731)
..Craniofacial deafness hand syndrome (C536453)
..Craniofacial Dysostosis (D003394) 68
..Craniofacial dyssynostosis (C536455)
..Craniofacioskeletal Syndrome (C567471)
..Craniofrontonasal dysplasia (C536456)
..Craniolenticulosutural Dysplasia (C564332)
..Craniomicromelic Syndrome (C566522)
..Craniorhiny (C565144)
..Craniosynostoses (D003398) 64
..Curly hair-acral keratoderma-caries syndrome (C536220)
..Desbuquois syndrome (C535943)
..Diaphanospondylodysostosis (C564305)
..Digitorenocerebral Syndrome (C563052)
..Donohue Syndrome (D056731) 1
..Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
..Exchondrosis Of Pinna, Posterior (C565036)
..Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (C567195)
..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..Faciocardiomelic Syndrome (C567176)
..Fg Syndrome 5 (C564480)
..Floating-harbor syndrome (C537062)
..Forebrain Defects (C566067)
..Fountain syndrome (C537270)
..Fragile Site 16p12 (C565001)
..Fraser-Like Syndrome (C565562)
..Fronto-facio-nasal dysplasia (C538063)
..Frontonasal dysplasia (C538065) 3
..Frontoocular Syndrome (C565340)
..Frontootopalatodigital Osteodysplasia (C567578)
..Fryns-Aftimos Syndrome (C565258)
..Game Friedman Paradice syndrome (C535406)
..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
..Genitopatellar Syndrome (C565255)
..Goldberg-Shprintzen megacolon syndrome (C537279)
..Gomez Lopez Hernandez syndrome (C537285)
..Gorlin Chaudhry Moss syndrome (C537290)
..Gracile bone dysplasia (C537291)
..Grant syndrome (C537293)
..Hall Riggs mental retardation syndrome (C535623)
..Hanhart syndrome (C535629)
..Harrod Doman Keele syndrome (C535635)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Hecht Scott syndrome (C535856)
..Hennekam lymphangiectasia lymphedema syndrome (C537255)
..Holoprosencephaly (D016142) 22
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Hypotonia-Cystinuria Syndrome (C564710)
..Ichthyosis cheek eyebrow syndrome (C536084)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Jones Hersh Yusk syndrome (C535885)
..Kapur Toriello syndrome (C537008)
..Kleefstra Syndrome (C563043)
..Kosztolanyi syndrome (C537024)
..Larsen syndrome, dominant type (C537873)
..Leichtman Wood Rohn syndrome (C537003)
..LEOPARD Syndrome (D044542) 2
..LIG4 Syndrome (C564694)
..Loeys-Dietz Syndrome (D055947) 5
..Lujan Fryns syndrome (C537724)
..Malpuech facial clefting syndrome (C535704)
..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
..Mandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
..Marshall syndrome (C536025)
..Marshall-Smith syndrome (C536026)
..Maxillofacial Abnormalities (D019767) 169
..Megalencephaly (D058627) 23
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..Microcephaly (D008831) 140
..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..Morillo-Cucci Passarge syndrome (C536983)
..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Nablus mask-like facial syndrome (C536110)
..Neurofaciodigitorenal syndrome (C537388)
..NF1 Microdeletion Syndrome (C563524)
..Noonan Syndrome (D009634) 12
..Oculoauriculofrontonasal syndrome (C537865)
..Oculocerebral hypopigmentation syndrome type Preus (C537866)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculootofacial Dysplasia (C563682)
..Orbital Margin, Hypoplasia of (C563490)
..Orofaciodigital Syndromes (D009958) 14
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otocephaly (C562503)
..Otofacioosseous-Gonadal Syndrome (C566597)
..Otopalatodigital Spectrum Disorder (C567577)
..Pallister W syndrome (C538106)
..Pashayan syndrome (C536303)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Plagiocephaly (D059041) 66
..Platybasia (D010985) 1
..Pointer syndrome (C536323)
..Potato nose (C538354)
..Preauricular Fistulae, Congenital (C563015)
..Prieto X-linked mental retardation syndrome (C535274)
..Pseudoaminopterin syndrome (C535823)
..Reardon Hall Slaney syndrome (C535294)
..Riddle Syndrome (C567453)
..Roberts Syndrome (C535687)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rommen Mueller Sybert syndrome (C535871)
..Rozin Hertz Goodman syndrome (C535876)
..Rubinstein-Taybi Syndrome (D012415) 2
..Say Meyer syndrome (C536620)
..SCARF syndrome (C536625)
..Schaefer Stein Oshman syndrome (C536627)
..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..Schinzel-Giedion syndrome (C536632)
..Schwartz-Lelek syndrome (C537519)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Seaver Cassidy syndrome (C537529)
..Seckel like syndrome type Buebel (C537532)
..Sener syndrome (C537579)
..Short Stature And Facioauriculothoracic Malformations (C566457)
..Short Stature-Obesity Syndrome (C564821)
..Silver-Russell Syndrome (D056730) 1
..Simosa cranio facial syndrome (C537339)
..Sonoda syndrome (C536680)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Teebi Shaltout syndrome (C536950)
..Teebi syndrome (C536951)
..Telecanthus (C562941)
..Temtamy syndrome (C536959)
..Ter Haar syndrome (C537274)
..Tetrasomy X (C536502)
..Tollner Horst Manzke syndrome (C536964)
..Tricho-dento-osseous syndrome (C536549)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Urioste Martinez-Frias syndrome (C536478)
..Van Bogaert-Hozay syndrome (C536526)
..Van Buchem disease type 2 (C536527)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Vertebral body fusion overgrowth (C536543)
..Viljoen Kallis Voges syndrome (C536349)
..Weaver syndrome (C536687)
..Weaver-Like Syndrome (C562443)
..Wiedemann Grosse Dibbern syndrome (C536704)
..Winter Shortland Temple syndrome (C536735)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5238

Name:

Holoprosencephaly

Definition:

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

Alternative IDs:

OMIM:236100

ParentIDs:

MESH:D000015|MESH:D019465|MESH:D025063|MESH:D061085

TreeNumbers:

C05.660.207.410 |C10.500.034.875 |C16.131.077.410 |C16.131.260.380 |C16.131.621.207.410 |C16.131.666.034.875 |C16.320.180.380

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: D016142
MeSH: D016142
OMIM: 236100;

Genes: HPE1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000835	Adrenal hypoplasia
4	HP:0001274	Agenesis of corpus callosum
5	HP:0006988	Alobar holoprosencephaly
6	HP:0009927	Aplasia of the nose
7	HP:0001321	Cerebellar hypoplasia
8	HP:0009914	Cyclopia
9	HP:0000873	Diabetes insipidus
10	HP:0030779	Ethmocephaly
11	HP:0002006	Facial cleft
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay
14	HP:0001425	Heterogeneous
15	HP:0001943	Hypoglycemia
16	HP:0000601	Hypotelorism
17	HP:0003829	Incomplete penetrance
18	HP:0001249	Intellectual disability
19	HP:0008501	Median cleft lip and palate
20	HP:0000252	Microcephaly
21	HP:0000054	Micropenis
22	HP:0000568	Microphthalmia
23	HP:0011800	Midface retrusion
24	HP:0001250	Seizure
25	HP:0004322	Short stature
26	HP:0003745	Sporadic
27	HP:0003828	Variable expressivity

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_002048.2(GAS1):c.776G>A (p.Gly259Glu)	2619	GAS1	Uncertain significance	387907166	RCV000024281;	N	MedGen:C1856096,OMIM:236100	9	89560919	89560919	NM_002048.2:c.776G>A	NP_002039.2:p.Gly259Glu	NC_000009.11:g.89560919C>T	OMIM Allelic Variant:139185.0002	C1856096 236100 Holoprosencephaly 1
NM_002048.2(GAS1):c.599C>G (p.Thr200Arg)	2619	GAS1	Uncertain significance	387907165	RCV000024280;	N	MedGen:C1856096,OMIM:236100	9	89561096	89561096	NM_002048.2:c.599C>G	NP_002039.2:p.Thr200Arg	NC_000009.11:g.89561096G>C	OMIM Allelic Variant:139185.0001	C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.353G>A (p.Cys118Tyr)	343637	RSPO4	Pathogenic	74315422	RCV000001251;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	947873	947873	NM_001029871.3:c.353G>A	NP_001025042.2:p.Cys118Tyr	NC_000020.10:g.947873C>T	OMIM Allelic Variant:610573.0003	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.319T>C (p.Cys107Arg)	343637	RSPO4	Pathogenic	74315421	RCV000001250;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	947907	947907	NM_001029871.3:c.319T>C	NP_001025042.2:p.Cys107Arg	NC_000020.10:g.947907A>G	OMIM Allelic Variant:610573.0002	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.301C>T (p.Gln101Ter)	343637	RSPO4	Pathogenic	387907026	RCV000023830;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	947925	947925	NM_001029871.3:c.301C>T	NP_001025042.2:p.Gln101Ter	NC_000020.10:g.947925G>A	OMIM Allelic Variant:610573.0006	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.218G>A (p.Cys73Tyr)	343637	RSPO4	Pathogenic	74315423	RCV000001252;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	948643	948643	NM_001029871.3:c.218G>A	NP_001025042.2:p.Cys73Tyr	NC_000020.10:g.948643C>T	OMIM Allelic Variant:610573.0004	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.199G>C (p.Gly67Arg)	343637	RSPO4	Pathogenic	387907028	RCV000023832;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	948662	948662	NM_001029871.3:c.199G>C	NP_001025042.2:p.Gly67Arg	NC_000020.10:g.948662C>G	OMIM Allelic Variant:610573.0008	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.194A>G (p.Gln65Arg)	343637	RSPO4	Pathogenic	74315420	RCV000001249;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	948667	948667	NM_001029871.3:c.194A>G	NP_001025042.2:p.Gln65Arg	NC_000020.10:g.948667T>C	OMIM Allelic Variant:610573.0001	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.190C>T (p.Arg64Cys)	343637	RSPO4	Pathogenic	387907027	RCV000023831;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	948671	948671	NM_001029871.3:c.190C>T	NP_001025042.2:p.Arg64Cys	NC_000020.10:g.948671G>A	OMIM Allelic Variant:610573.0007	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1
NM_001029871.3(RSPO4):c.98dupG (p.Asn34Glnfs)	343637	RSPO4	Pathogenic	768138495	RCV000001253;	N	MedGen:C0265998,OMIM:206800,SNOMED CT:23610003	20	948763	948763	NM_001029871.3:c.98dupG	NP_001025042.2:p.Asn34Glnfs	NC_000020.10:g.948763dupC	OMIM Allelic Variant:610573.0005	C0265998 206800 Anonychia; C1856096 236100 Holoprosencephaly 1