MCID: FLT006
MIFTS: 41

Floating-Harbor Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases

Aliases & Classifications for Floating-Harbor Syndrome

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Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 51 23 47 24 25 53 69 26 12 67
Pelletier-Leisti Syndrome 47 25
Flhs 25 69
Fhs 47 25
 
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 47
Leisti-Hollander-Rimoin Syndrome 25
Fetal Hydantoin Syndrome 67

Characteristics:

Orphanet epidemiological data:

53
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

63
floating-harbor syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 136140
Orphanet53 ORPHA2044
MESH via Orphanet39 C537062
UMLS via Orphanet68 C0729582
ICD10 via Orphanet30 Q87.8
MedGen36 C0729582
MeSH38 D000015

Summaries for Floating-Harbor Syndrome

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NIH Rare Diseases:47 Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970's: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language problems, and mild to moderate intellectual disability. Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change (mutation) in the SRCAP gene. The mutation can be inherited from a parent or can occur for the first time in an affected individual. Communication issues and developmental disabilities may be helped with early intervention programs and special education. Last updated: 4/29/2016

MalaCards based summary: Floating-Harbor Syndrome, also known as pelletier-leisti syndrome, is related to hyperaldosteronism, familial, type iii and hypercholesterolemia, familial, and has symptoms including wide mouth, thin vermilion border and short philtrum. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein). Affiliated tissues include bone, eye and heart.

Genetics Home Reference:25 Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.

OMIM:51 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age,... (136140) more...

UniProtKB/Swiss-Prot:69 Floating-Harbor syndrome: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.

Wikipedia:70 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than... more...

GeneReviews for NBK114458

Related Diseases for Floating-Harbor Syndrome

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Graphical network of the top 20 diseases related to Floating-Harbor Syndrome:



Diseases related to floating-harbor syndrome

Symptoms for Floating-Harbor Syndrome

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Symptoms by clinical synopsis from OMIM:

136140

Clinical features from OMIM:

136140

Human phenotypes related to Floating-Harbor Syndrome:

 63 53 (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth63 53 hallmark (90%) Very frequent (99-80%) HP:0000154
2 thin vermilion border63 53 hallmark (90%) Very frequent (99-80%) HP:0000233
3 short philtrum63 53 hallmark (90%) Very frequent (99-80%) HP:0000322
4 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
5 wide nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000431
6 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
7 abnormality of the eyelashes63 hallmark (90%) HP:0000499
8 limitation of joint mobility63 hallmark (90%) HP:0001376
9 abnormality of the voice63 53 hallmark (90%) Very frequent (99-80%) HP:0001608
10 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
11 delayed skeletal maturation63 53 hallmark (90%) Very frequent (99-80%) HP:0002750
12 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
13 abnormality of thumb phalanx63 hallmark (90%) HP:0009602
14 broad columella63 53 hallmark (90%) Very frequent (99-80%) HP:0010761
15 triangular face63 53 typical (50%) Frequent (79-30%) HP:0000325
16 underdeveloped nasal alae63 53 typical (50%) Frequent (79-30%) HP:0000430
17 deeply set eye63 53 typical (50%) Frequent (79-30%) HP:0000490
18 abnormality of the clavicle63 53 typical (50%) Frequent (79-30%) HP:0000889
19 hypertrichosis63 typical (50%) HP:0000998
20 brachydactyly syndrome63 53 typical (50%) Frequent (79-30%) HP:0001156
21 joint dislocation63 typical (50%) HP:0001373
22 joint hypermobility63 typical (50%) HP:0001382
23 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
24 constipation63 53 typical (50%) Frequent (79-30%) HP:0002019
25 malabsorption63 53 typical (50%) Frequent (79-30%) HP:0002024
26 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
27 abnormality of immune system physiology63 typical (50%) HP:0010978
28 camptodactyly of finger63 53 typical (50%) Frequent (79-30%) HP:0100490
29 cognitive impairment63 typical (50%) HP:0100543
30 abnormality of the soft palate63 53 typical (50%) Frequent (79-30%) HP:0100736
31 trigonocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000243
32 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
33 telecanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000506
34 abnormality of the urethra63 occasional (7.5%) HP:0000795
35 abnormality of the fingernails63 53 occasional (7.5%) Occasional (29-5%) HP:0001231
36 attention deficit hyperactivity disorder63 occasional (7.5%) HP:0007018
37 hypoplasia of penis63 53 occasional (7.5%) Occasional (29-5%) HP:0008736
38 inguinal hernia63 rare (5%) HP:0000023
39 cryptorchidism63 rare (5%) HP:0000028
40 hypospadias63 rare (5%) HP:0000047
41 nephrocalcinosis63 rare (5%) HP:0000121
42 hydronephrosis63 rare (5%) HP:0000126
43 recurrent otitis media63 53 rare (5%) Frequent (79-30%) HP:0000403
44 conductive hearing impairment63 rare (5%) HP:0000405
45 hypermetropia63 rare (5%) HP:0000540
46 umbilical hernia63 rare (5%) HP:0001537
47 atria septal defect63 rare (5%) HP:0001631
48 coarctation of aorta63 rare (5%) HP:0001680
49 persistent left superior vena cava63 rare (5%) HP:0005301
50 congenital posterior urethral valve63 53 rare (5%) Occasional (29-5%) HP:0010957
51 mesocardia63 rare (5%) HP:0011599
52 varicocele63 rare (5%) HP:0012871
53 smooth philtrum63 HP:0000319
54 posteriorly rotated ears63 53 Very frequent (99-80%) HP:0000358
55 prominent nose63 53 Very frequent (99-80%) HP:0000448
56 long eyelashes63 53 Very frequent (99-80%) HP:0000527
57 hirsutism63 HP:0001007
58 joint laxity63 HP:0001388
59 low posterior hairline63 HP:0002162
60 expressive language delay63 53 Very frequent (99-80%) HP:0002474
61 celiac disease63 HP:0002608
62 downturned corners of mouth63 HP:0002714
63 cone-shaped epiphyses of the phalanges of the hand63 HP:0010230
64 bulbous nose53 Very frequent (99-80%)
65 short clavicles53 Frequent (79-30%)
66 intellectual disability53 Frequent (79-30%)
67 global developmental delay53 Frequent (79-30%)
68 joint stiffness53 Very frequent (99-80%)
69 nasal speech53 Very frequent (99-80%)
70 high pitched voice53 Very frequent (99-80%)
71 generalized hirsutism53 Frequent (79-30%)
72 malformation of the heart and great vessels53 Occasional (29-5%)
73 enlarged joints53 Frequent (79-30%)
74 joint hyperflexibility53 Frequent (79-30%)
75 congenital pseudoarthrosis of the clavicle53 Frequent (79-30%)
76 generalized cerebral atrophy/hypoplasia53 Occasional (29-5%)
77 feeding difficulties in infancy53 Frequent (79-30%)
78 broad thumb53 Very frequent (99-80%)

UMLS symptoms related to Floating-Harbor Syndrome:


joint laxity

Drugs & Therapeutics for Floating-Harbor Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Floating-Harbor Syndrome

Genetic Tests for Floating-Harbor Syndrome

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Genetic tests related to Floating-Harbor Syndrome:

id Genetic test Affiliating Genes
1 Floating-Harbor Syndrome26 24 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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MalaCards organs/tissues related to Floating-Harbor Syndrome:

35
Bone, Eye, Heart, Kidney, Spinal cord

Animal Models for Floating-Harbor Syndrome or affiliated genes

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Publications for Floating-Harbor Syndrome

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Articles related to Floating-Harbor Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Chiari I malformation as part of the Floating-Harbor syndrome? (27815143)
2016
2
Floating Harbor Syndrome. (27206688)
2016
3
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. (27208210)
2016
4
The defining DNA methylation signature of Floating-Harbor Syndrome. (27934915)
2016
5
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. (25433523)
2014
6
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (22965468)
2013
7
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (24375913)
2013
8
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. (23763483)
2013
9
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
10
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
11
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
12
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
13
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
14
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
15
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
16
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
17
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
18
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
19
Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues. (20358589)
2010
20
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
21
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
2009
22
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
23
Floating-Harbor syndrome: case report. (18449141)
2008
24
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. (18978661)
2008
25
Precocious puberty in a girl with floating-harbor syndrome. (18341094)
2007
26
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. (17955782)
2007
27
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
2006
28
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
29
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. (15889416)
2005
30
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. (15139957)
2004
31
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. (15378536)
2004
32
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
33
A variant example of familial Floating-Harbor syndrome? (12725587)
2003
34
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (14738118)
2003
35
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. (11883867)
2002
36
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. (11746027)
2001
37
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
38
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
39
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
40
The floating harbor syndrome with cardiac septal defect. (8985491)
1996
41
Floating-Harbor syndrome. A neuropsychological approach. (8985732)
1996
42
Two more diagnostic signs in the Floating-Harbor syndrome. (8867666)
1996
43
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
44
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
45
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
46
Further observations on the Floating-Harbor syndrome. (8055134)
1994
47
Floating-Harbor syndrome and celiac disease. (2063899)
1991
48
Floating-Harbor syndrome. (2051457)
1991
49
The Floating-Harbor syndrome. (2029915)
1991
50
The Floating-Harbor syndrome. (1218224)
1975

Variations for Floating-Harbor Syndrome

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Clinvar genetic disease variations for Floating-Harbor Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SRCAPNM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter)SNVPathogenicrs587777656GRCh38Chr 16, 30736616: 30736616
2SRCAPNM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter)SNVPathogenicrs587784444GRCh38Chr 16, 30738033: 30738033
3SRCAPNM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter)SNVPathogenicrs199469464GRCh37Chr 16, 30748691: 30748691
4SRCAPNM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter)SNVPathogenicrs199469465GRCh37Chr 16, 30748664: 30748664
5SRCAPNM_006662.2(SRCAP): c.7549delC (p.Gln2517Lysfs)deletionPathogenicrs199469466GRCh38Chr 16, 30737589: 30737589
6SRCAPNM_006662.2(SRCAP): c.7863dupG (p.Gln2622Alafs)duplicationPathogenicrs587776938GRCh38Chr 16, 30737903: 30737903

Expression for genes affiliated with Floating-Harbor Syndrome

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Search GEO for disease gene expression data for Floating-Harbor Syndrome.

Pathways for genes affiliated with Floating-Harbor Syndrome

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GO Terms for genes affiliated with Floating-Harbor Syndrome

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Biological processes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetylationGO:00165739.4CREBBP, SRCAP
2viral processGO:00160329.1CREBBP, SRCAP

Molecular functions related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase activityGO:00044029.2CREBBP, SRCAP
2transcription coactivator activityGO:00037139.1CREBBP, SRCAP

Sources for Floating-Harbor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet