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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

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

Disease Browser
Parent Node: Agenesis of Corpus Callosum (D061085)
..Starting node ..Acrocallosal Syndrome (D055673)
Child Nodes:
........Acrocallosal syndrome, Schinzel type (C538177)
Sister Nodes:
..Absent corpus callosum cataract immunodeficiency (C535566)
..Acrocallosal Syndrome (D055673) 1
..Aicardi Syndrome (D058540) 1
..Ben Ari Shuper Mimouni syndrome (C535427)
..Calloso-genital dysplasia (C537962)
..CAMFAK syndrome (C537965)
..Chudley-Mccullough syndrome (C535459)
..Combined Oxidative Phosphorylation Deficiency 2 (C566468)
..Corpus callosum agenesis neuronopathy (C536446)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
..Curatolo Cilio Pessagno syndrome (C536701)
..Donnai-Barrow syndrome (C536390)
..Duker Weiss Siber syndrome (C535719)
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..Faye-Petersen Ward Carey syndrome (C537076)
..Holoprosencephaly (D016142) 22
..Kozlowski Ouvrier syndrome (C537508)
..Lissencephaly and agenesis of corpus callosum (C531731)
..Median cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Nakamura Osame syndrome (C538335)
..Opitz-Kaveggia syndrome (C537923)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Partial agenesis of corpus callosum (C536111)
..Proud Syndrome (C563110)
..Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum (C559045)
..Saal Bulas syndrome (C537193)
..Sakoda Complex (C567055)
..Shapiro syndrome (C537594)
..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..Temtamy syndrome (C536959)
..Thrombocytopenia Robin sequence (C536898)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

175

Name:

Acrocallosal Syndrome

Definition:

Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.

Alternative IDs:

OMIM:200990

ParentIDs:

MESH:D061085

TreeNumbers:

C10.500.034.500 |C16.131.666.034.500

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: D055673
MeSH: D055673
OMIM: 200990;

Genes: KIF7;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0001671	Abnormal cardiac septum morphology
4	HP:0001641	Abnormal pulmonary valve morphology
5	HP:0030680	Abnormality of cardiovascular system morphology	HP:0040284
6	HP:0000377	Abnormality of the pinna	HP:0040284
7	HP:0001274	Agenesis of corpus callosum
8	HP:0002023	Anal atresia
9	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040280
10	HP:0009611	Bifid distal phalanx of the thumb
11	HP:0001156	Brachydactyly
12	HP:0000337	Broad forehead	HP:0040282
13	HP:0000175	Cleft palate	HP:0040284
14	HP:0000204	Cleft upper lip	HP:0040284
15	HP:0004209	Clinodactyly of the 5th finger
16	HP:0000589	Coloboma	HP:0040283
17	HP:0000028	Cryptorchidism	HP:0040283
18	HP:0000494	Downslanted palpebral fissures	HP:0040282
19	HP:0010066	Duplication of phalanx of hallux	HP:0040281
20	HP:0009942	Duplication of thumb phalanx	HP:0040281
21	HP:0000286	Epicanthus	HP:0040282
22	HP:0001508	Failure to thrive	HP:0040282
23	HP:0006101	Finger syndactyly	HP:0040282
24	HP:0002007	Frontal bossing	HP:0040284
25	HP:0001290	Generalized hypotonia	HP:0040284
26	HP:0001510	Growth delay	HP:0040282
27	HP:0000365	Hearing impairment	HP:0040283
28	HP:0001425	Heterogeneous
29	HP:0000218	High palate	HP:0040284
30	HP:0000316	Hypertelorism	HP:0040284
31	HP:0007894	Hypopigmentation of the fundus
32	HP:0000685	Hypoplasia of teeth	HP:0040284
33	HP:0000047	Hypospadias	HP:0040284
34	HP:0000023	Inguinal hernia	HP:0040282
35	HP:0001249	Intellectual disability	HP:0040284
36	HP:0010864	Intellectual disability, severe
37	HP:0010576	Intracranial cystic lesion	HP:0040284
38	HP:0000343	Long philtrum	HP:0040284
39	HP:0000256	Macrocephaly	HP:0040284
40	HP:0000054	Micropenis	HP:0040283
41	HP:0000308	Microretrognathia	HP:0040284
42	HP:0000639	Nystagmus	HP:0040283
43	HP:0000194	Open mouth	HP:0040284
44	HP:0000648	Optic atrophy	HP:0040283
45	HP:0003812	Phenotypic variability
46	HP:0001830	Postaxial foot polydactyly	HP:0040281
47	HP:0001162	Postaxial hand polydactyly	HP:0040281
48	HP:0000358	Posteriorly rotated ears	HP:0040283
49	HP:0008897	Postnatal growth retardation
50	HP:0000384	Preauricular skin tag	HP:0040282
51	HP:0001841	Preaxial foot polydactyly	HP:0040281
52	HP:0001177	Preaxial hand polydactyly	HP:0040281
53	HP:0011220	Prominent forehead
54	HP:0000269	Prominent occiput
55	HP:0000143	Rectovaginal fistula
56	HP:0001250	Seizure	HP:0040284
57	HP:0003196	Short nose	HP:0040282
58	HP:0000322	Short philtrum	HP:0040284
59	HP:0000319	Smooth philtrum	HP:0040284
60	HP:0000486	Strabismus	HP:0040283
61	HP:0001182	Tapered finger	HP:0040283
62	HP:0000233	Thin vermilion border	HP:0040284
63	HP:0001770	Toe syndactyly	HP:0040282
64	HP:0000207	Triangular mouth
65	HP:0001537	Umbilical hernia	HP:0040282
66	HP:0000260	Wide anterior fontanel	HP:0040282
67	HP:0000431	Wide nasal bridge	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_198525.2(KIF7):c.3331C>T (p.Arg1111Ter)	374654	KIF7	Pathogenic	778139192	RCV000201533;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90172792	90172792	NM_198525.2:c.3331C>T	NP_940927.2:p.Arg1111Ter	NC_000015.9:g.90172792G>A	-	C0796147 200990 Acrocallosal syndrome, Schinzel type
NM_198525.2(KIF7):c.3001C>T (p.Gln1001Ter)	374654	KIF7	Pathogenic	387907045	RCV000023883;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90174836	90174836	NM_198525.2:c.3001C>T	NP_940927.2:p.Gln1001Ter	NC_000015.9:g.90174836G>A	OMIM Allelic Variant:611254.0003	C0796147 200990 Acrocallosal syndrome, Schinzel type
NM_198525.2(KIF7):c.2981A>G (p.Gln994Arg)	374654	KIF7	Pathogenic;Uncertain significance	138410949	RCV000201541; RCV000174962;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36; MedGen:CN221809	15	90174856	90174856	NM_198525.2:c.2981A>G	NP_940927.2:p.Gln994Arg	NC_000015.9:g.90174856T>C	-	C0796147 200990 Acrocallosal syndrome, Schinzel type; CN221809 not provided
NM_198525.2(KIF7):c.2944G>T (p.Glu982Ter)	374654	KIF7	Pathogenic	797045093	RCV000190601;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90174893	90174893	NM_198525.2:c.2944G>T	NP_940927.2:p.Glu982Ter	NC_000015.9:g.90174893C>A	-	C0796147 200990 Acrocallosal syndrome, Schinzel type
NM_198525.2(KIF7):c.2917C>T (p.Arg973Ter)	374654	KIF7	Pathogenic	202229910	RCV000201660;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90174920	90174920	NM_198525.2:c.2917C>T	NP_940927.2:p.Arg973Ter	NC_000015.9:g.90174920G>A	-	C0796147 200990 Acrocallosal syndrome, Schinzel type
NM_198525.2(KIF7):c.2896_2897delGC (p.Ala966Profs)	374654	KIF7	Pathogenic	752248403	RCV000023881; RCV000023880;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36; MedGen:C3279899,OMIM:614120	15	90174940	90174941	NM_198525.2:c.2896_2897delGC	NP_940927.2:p.Ala966Profs	NC_000015.9:g.90174940_90174941delGC	OMIM Allelic Variant:611254.0001	C0796147 200990 Acrocallosal syndrome, Schinzel type; C3279899 614120 Hydrolethalus syndrome 2
NM_198525.2(KIF7):c.687delG (p.Arg230Alafs)	374654	KIF7	Pathogenic	797044464	RCV000023885;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90192441	90192441	NM_198525.2:c.687delG	NP_940927.2:p.Arg230Alafs	NC_000015.9:g.90192441delC	OMIM Allelic Variant:611254.0005	C0796147 200990 Acrocallosal syndrome, Schinzel type
NM_198525.2(KIF7):c.587dupT (p.Glu197Glyfs)	374654	KIF7	Pathogenic	797044463	RCV000023884;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90192541	90192541	NM_198525.2:c.587dupT	NP_940927.2:p.Glu197Glyfs	NC_000015.9:g.90192541dupA	OMIM Allelic Variant:611254.0004	C0796147 200990 Acrocallosal syndrome, Schinzel type
NM_198525.2(KIF7):c.460C>T (p.Arg154Ter)	374654	KIF7	Pathogenic	387907044	RCV000023882;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90193041	90193041	NM_198525.2:c.460C>T	NP_940927.2:p.Arg154Ter	NC_000015.9:g.90193041G>A	OMIM Allelic Variant:611254.0002	C0796147 200990 Acrocallosal syndrome, Schinzel type
NM_198525.2(KIF7):c.61C>T (p.Arg21Ter)	374654	KIF7	Pathogenic	794727316	RCV000176011;	N	Gene:46,MedGen:C0796147,OMIM:200990,ORPHA:36	15	90196101	90196101	NM_198525.2:c.61C>T	NP_940927.2:p.Arg21Ter	NC_000015.9:g.90196101G>A	-	C0796147 200990 Acrocallosal syndrome, Schinzel type