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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: Limb Deformities, Congenital (D017880)
Parent Node: Microphthalmos (D008850)
Parent Node: Nervous System Malformations (D009421)
Parent Node: Urogenital Abnormalities (D014564)
..Starting node ..Microphthalmia, Syndromic 6 (C566440)
Child Nodes:
Sister Nodes:
..Allanson Pantzar McLeod syndrome (C537048) 1
..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bladder Exstrophy (D001746) 1
..Calabro syndrome (C537960)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cryptorchidism (D003456) 12
..Disorders of Sex Development (D012734) 107
..DK Phocomelia Syndrome (C565618)
..Duker Weiss Siber syndrome (C535719)
..Epispadias (D004842) 1
..Genitopatellar Syndrome (C565255)
..Genitourinary Tract Anomalies (C564424)
..Hand foot uterus syndrome (C535627)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hypospadias (D007021) 17
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Lissencephaly, X-Linked, 2 (C564563)
..Microcephaly seizures genital hypoplasia (C537540)
..Microphthalmia, Syndromic 6 (C566440)
..Multicystic Dysplastic Kidney (D021782) 2
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Nephritis, Hereditary (D009394) 11
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Omphalocele exstrophy imperforate anus (C537748)
..Piepkorn Karp Hickok syndrome (C535774)
..Popliteal Pterygium Syndrome (C562509)
..Proud Syndrome (C563110)
..Pyelectasis (D058536)
..Renal Adysplasia (C563261)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal, Genital, and Middle Ear Anomalies (C564849)
..Retrocaval Ureter (D064749)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rosselli-Gulienetti Syndrome (C563117)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Ureter, Bifid Or Double (C566012)
..Urinary Fistula (D014548) 2
..Uterine Anomalies (C562565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7245

Name:

Microphthalmia, Syndromic 6

Definition:

Alternative IDs:

OMIM:607932

ParentIDs:

MESH:D008850|MESH:D009421|MESH:D014564|MESH:D017880

TreeNumbers:

C05.660.585/C566440 |C10.500/C566440 |C11.250.566/C566440 |C12.706/C566440 |C13.351.875/C566440 |C16.131.384.666/C566440 |C16.131.621.585/C566440 |C16.131.666/C566440 |C16.131.939/C566440

Synonyms:

Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia |MCOPS6 |Microphthalmia And Pituitary Anomalies |Microphthalmia With Brain And Digit Developmental Anomalies

Slim Mappings:

Reference:

MedGen: C566440
MeSH: C566440
OMIM: 607932;

Genes: BMP4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003319	Abnormality of the cervical spine	HP:0040284
3	HP:0001344	Absent speech	HP:0040284
4	HP:0000835	Adrenal hypoplasia	HP:0040284
5	HP:0000528	Anophthalmia	HP:0040284
6	HP:0000830	Anterior hypopituitarism	HP:0040284
7	HP:0010999	Aplasia of the optic tract	HP:0040284
8	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040284
9	HP:0000048	Bifid scrotum	HP:0040284
10	HP:0000193	Bifid uvula
11	HP:0000618	Blindness	HP:0040284
12	HP:0000248	Brachycephaly	HP:0040284
13	HP:0001156	Brachydactyly
14	HP:0001321	Cerebellar hypoplasia	HP:0040284
15	HP:0002120	Cerebral cortical atrophy	HP:0040284
16	HP:0000175	Cleft palate	HP:0040284
17	HP:0004209	Clinodactyly of the 5th finger	HP:0040284
18	HP:0000589	Coloboma	HP:0040284
19	HP:0000028	Cryptorchidism	HP:0040284
20	HP:0002188	Delayed CNS myelination
21	HP:0000324	Facial asymmetry	HP:0040284
22	HP:0001508	Failure to thrive	HP:0040284
23	HP:0000134	Female hypogonadism	HP:0040284
24	HP:0006101	Finger syndactyly	HP:0040284
25	HP:0009600	Flexion contracture of thumb	HP:0040284
26	HP:0001263	Global developmental delay	HP:0040284
27	HP:0000365	Hearing impairment	HP:0040284
28	HP:0000348	High forehead
29	HP:0000218	High palate	HP:0040284
30	HP:0000047	Hypospadias	HP:0040284
31	HP:0000821	Hypothyroidism	HP:0040284
32	HP:0001252	Hypotonia	HP:0040284
33	HP:0007068	Inferior vermis hypoplasia	HP:0040284
34	HP:0004443	Lambdoidal craniosynostosis	HP:0040284
35	HP:0000369	Low-set ears	HP:0040284
36	HP:0000400	Macrotia
37	HP:0000272	Malar flattening
38	HP:0000252	Microcephaly	HP:0040284
39	HP:0000482	Microcornea	HP:0040284
40	HP:0000171	Microglossia	HP:0040284
41	HP:0000347	Micrognathia	HP:0040284
42	HP:0000054	Micropenis	HP:0040284
43	HP:0000568	Microphthalmia	HP:0040281
44	HP:0011800	Midface retrusion
45	HP:0000545	Myopia	HP:0040284
46	HP:0000639	Nystagmus	HP:0040284
47	HP:0001144	Orbital cyst	HP:0040284
48	HP:0001357	Plagiocephaly	HP:0040284
49	HP:0000358	Posteriorly rotated ears	HP:0040284
50	HP:0001177	Preaxial hand polydactyly	HP:0040284
51	HP:0000411	Protruding ear	HP:0040284
52	HP:0000089	Renal hypoplasia	HP:0040284
53	HP:0000556	Retinal dystrophy	HP:0040284
54	HP:0000278	Retrognathia	HP:0040284
55	HP:0000647	Sclerocornea	HP:0040284
56	HP:0006829	Severe muscular hypotonia
57	HP:0005819	Short middle phalanx of finger	HP:0040284
58	HP:0000954	Single transverse palmar crease
59	HP:0030276	Small scrotum
60	HP:0010538	Small sella turcica	HP:0040284
61	HP:0001770	Toe syndactyly
62	HP:0009909	Uplifted earlobe
63	HP:0002119	Ventriculomegaly	HP:0040284

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_001202.4(BMP4):c.592C>T (p.Arg198Ter)	652	BMP4	Pathogenic	387906597	RCV000022456; RCV000022455;	N	MedGen:C1864689,OMIM:607932,ORPHA:139471; MedGen:C2677434,OMIM:600625	14	54417385	54417385	NM_001202.4:c.592C>T	NP_001193.2:p.Arg198Ter		OMIM Allelic Variant:112262.0007	C1864689 607932 Microphthalmia syndromic 6; C2677434 600625 Orofacial cleft 11
NM_001202.4(BMP4):c.362A>G (p.His121Arg)	652	BMP4	Pathogenic	376960358	RCV000022458;	N	MedGen:C1864689,OMIM:607932,ORPHA:139471	14	54418579	54418579	NM_001202.4:c.362A>G	NP_001193.2:p.His121Arg	NC_000014.8:g.54418579T>C	OMIM Allelic Variant:112262.0009	C1864689 607932 Microphthalmia syndromic 6
NM_001202.4(BMP4):c.278A>G (p.Glu93Gly)	652	BMP4	Pathogenic	121912765	RCV000019275;	N	MedGen:C1864689,OMIM:607932,ORPHA:139471	14	54418663	54418663	NM_001202.4:c.278A>G	NP_001193.2:p.Glu93Gly	NC_000014.8:g.54418663T>C	OMIM Allelic Variant:112262.0002	C1864689 607932 Microphthalmia syndromic 6