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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: Craniofacial Abnormalities (D019465)
Parent Node: Growth Disorders (D006130)
Parent Node: Heart Septal Defects, Ventricular (D006345)
..Starting node ..Floating-harbor syndrome (C537062)
Child Nodes:
Sister Nodes:
..Aneurysm Of Interventricular Septum (C563239)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Floating-harbor syndrome (C537062)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Laurence Prosser Rocker syndrome (C537882)
..Partial atrioventricular canal (C536112)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4335

Name:

Floating-harbor syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D006130|MESH:D006345|MESH:D019465

TreeNumbers:

C05.660.207/C537062 |C14.240.400.560.540/C537062 |C14.280.400.560.540/C537062 |C16.131.077/C537062 |C16.131.240.400.560.540/C537062 |C16.131.621.207/C537062 |C23.550.393/C537062

Synonyms:

Leisti-Hollander-Rimoin Syndrome |Pelletier-Leisti syndrome

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C537062
MeSH: C537062
OMIM: 136140;

Genes: SRCAP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001631	Atrial septal defect	HP:0040283
3	HP:0002608	Celiac disease
4	HP:0004209	Clinodactyly of the 5th finger
5	HP:0001680	Coarctation of aorta	HP:0040283
6	HP:0100543	Cognitive impairment	HP:0040283
7	HP:0000405	Conductive hearing impairment	HP:0040283
8	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
9	HP:0010957	Congenital posterior urethral valve	HP:0040283
10	HP:0000028	Cryptorchidism	HP:0040283
11	HP:0000490	Deeply set eye
12	HP:0002750	Delayed skeletal maturation
13	HP:0002714	Downturned corners of mouth
14	HP:0030424	Epididymal cyst	HP:0040283
15	HP:0002474	Expressive language delay
16	HP:0001007	Hirsutism
17	HP:0000126	Hydronephrosis	HP:0040283
18	HP:0000540	Hypermetropia	HP:0040283
19	HP:0000047	Hypospadias	HP:0040283
20	HP:0000023	Inguinal hernia	HP:0040283
21	HP:0001388	Joint laxity
22	HP:0000527	Long eyelashes
23	HP:0002162	Low posterior hairline
24	HP:0011599	Mesocardia	HP:0040283
25	HP:0000121	Nephrocalcinosis	HP:0040283
26	HP:0005301	Persistent left superior vena cava	HP:0040283
27	HP:0000358	Posteriorly rotated ears
28	HP:0000448	Prominent nose
29	HP:0000403	Recurrent otitis media	HP:0040283
30	HP:0000470	Short neck
31	HP:0004322	Short stature
32	HP:0000319	Smooth philtrum
33	HP:0000486	Strabismus	HP:0040283
34	HP:0000233	Thin vermilion border
35	HP:0000325	Triangular face
36	HP:0001537	Umbilical hernia	HP:0040283
37	HP:0012871	Varicocele	HP:0040283
38	HP:0000154	Wide mouth

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_006662.2(SRCAP):c.132C>T (p.Gly44=)	10847	SRCAP	Uncertain significance	149628651	RCV000147662;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005	16	30715462	30715462	NM_006662.2:c.132C>T	NP_006653.2:p.Gly44=	NC_000016.9:g.30715462C>T	-	C0729582 136140 Floating-Harbor syndrome
NM_006662.2(SRCAP):c.4603C>G (p.Pro1535Ala)	10847	SRCAP	Benign;Uncertain significance	117804715	RCV000147665; RCV000176565;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005; MedGen:CN169374	16	30735348	30735348	NM_006662.2:c.4603C>G	NP_006653.2:p.Pro1535Ala	NC_000016.9:g.30735348C>G	-	C0729582 136140 Floating-Harbor syndrome; CN169374 not specified
NM_006662.2(SRCAP):c.7000C>T (p.Gln2334Ter)	10847	SRCAP	Pathogenic	587777656	RCV000133554;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005	16	30747937	30747937	NM_006662.2:c.7000C>T	NP_006653.2:p.Gln2334Ter	16:g.30747937C>T	OMIM Allelic Variant:611421.0005	C0729582 136140 Floating-Harbor syndrome
NM_006662.2(SRCAP):c.7303C>T (p.Arg2435Ter)	10847	SRCAP	Pathogenic	199469465	RCV000023896;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005	16	30748664	30748664	NM_006662.2:c.7303C>T	NP_006653.2:p.Arg2435Ter	NC_000016.9:g.30748664C>T	OMIM Allelic Variant:611421.0002	C0729582 136140 Floating-Harbor syndrome
NM_006662.2(SRCAP):c.7330C>T (p.Arg2444Ter)	10847	SRCAP	Pathogenic	199469464	RCV000023895;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005	16	30748691	30748691	NM_006662.2:c.7330C>T	NP_006653.2:p.Arg2444Ter	NC_000016.9:g.30748691C>T	OMIM Allelic Variant:611421.0001	C0729582 136140 Floating-Harbor syndrome
NM_006662.2(SRCAP):c.7549delC (p.Gln2517Lysfs)	10847	SRCAP	Pathogenic	199469466	RCV000023897;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005	16	30748910	30748910	NM_006662.2:c.7549delC	NP_006653.2:p.Gln2517Lysfs	NC_000016.9:g.30748910delC	OMIM Allelic Variant:611421.0003	C0729582 136140 Floating-Harbor syndrome
NM_006662.2(SRCAP):c.7863dupG (p.Gln2622Alafs)	10847	SRCAP	Pathogenic	587776938	RCV000033112;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005	16	30749224	30749224	NM_006662.2:c.7863dupG	NP_006653.2:p.Gln2622Alafs		OMIM Allelic Variant:611421.0004	C0729582 136140 Floating-Harbor syndrome
NM_006662.2(SRCAP):c.7993C>T (p.Gln2665Ter)	10847	SRCAP	Pathogenic	587784444	RCV000147668;	N	MedGen:C0729582,OMIM:136140,ORPHA:2044,SNOMED CT:312214005	16	30749354	30749354	NM_006662.2:c.7993C>T	NP_006653.2:p.Gln2665Ter	NC_000016.9:g.30749354C>T	-	C0729582 136140 Floating-Harbor syndrome