MCID: FLT006
MIFTS: 42

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:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 49 11 21 45 22 23 51 67 24 65
Pelletier-Leisti Syndrome 45 23
Flhs 23 67
Fhs 45 23
 
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 45
Leisti-Hollander-Rimoin Syndrome 23
Fetal Hydantoin Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

61
floating-harbor syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 136140
Orphanet51 2044
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537062
UMLS via Orphanet66 C0729582
MedGen34 C0729582
MeSH36 D000015
UMLS65 C0729582, C0265372

Summaries for Floating-Harbor Syndrome

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NIH Rare Diseases:45 Floating-harbor syndrome (fhs) is named after the two hospitals where the first cases were reported in the medical literature: the boston floating hospital and harbor general hospital in california. the first cases were identified during the 1970's and there is much about the disorder that is not fully understood. signs and symptoms of floating harbor syndrome can vary but may include the following: short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language deficits, and mild to moderate intellectual disability. behavioral difficulties that are present in many children tend to improve with age. fhs is caused by mutations or changes in the srcap gene. the mutation can be inherited from a parent or can be the result of a new mutation in the affected individual. early intervention programs and special education to address developmental disabilities and communication issues may be indicated. 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 broad columella, abnormality of thumb phalanx and short stature. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2-Related CREBBP Activator Protein). Affiliated tissues include bone, eye and breast.

Genetics Home Reference:23 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:49 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age,... (136140) more...

UniProtKB/Swiss-Prot:67 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:68 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than... more...

GeneReviews summary 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

Symptoms:

 51 (show all 43)
  • long/thick/curved lashes/trichomegaly/polytrichia
  • long/large/bulbous nose
  • broad nasal root
  • thick columella
  • macrostomia/big mouth
  • thin/retracted lips
  • short philtrum
  • low set ears/posteriorly rotated ears
  • short neck
  • broad/bifid thumb
  • abnormal cry/voice/phonation disorder/nasal speech
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • delayed bone age
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • triangular face
  • deepset eyes/enophthalmos
  • thin/hypoplastic ala nasi
  • immobile soft palate/soft palate anomaly
  • clavicle absent/abnormal
  • short hand/brachydactyly
  • camptodactyly of some fingers
  • clinodactyly of fifth finger
  • hirsutism/hypertrichosis/increased body hair
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • trigonocephaly
  • strabismus/squint
  • telecanthus/canthal dystopy
  • thin/hypoplastic/hyperconvex fingernails
  • congenital cardiac anomaly/malformation/cardiopathy
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • micropenis/small penis/agenesis
  • motor deficit/trouble
  • hyperactivity/attention deficit
  • autosomal dominant inheritance
  • autosomal recessive inheritance

HPO human phenotypes related to Floating-Harbor Syndrome:

(show all 72)
id Description Frequency HPO Source Accession
1 broad columella hallmark (90%) HP:0010761
2 abnormality of thumb phalanx hallmark (90%) HP:0009602
3 short stature hallmark (90%) HP:0004322
4 delayed skeletal maturation hallmark (90%) HP:0002750
5 neurological speech impairment hallmark (90%) HP:0002167
6 abnormality of the voice hallmark (90%) HP:0001608
7 limitation of joint mobility hallmark (90%) HP:0001376
8 abnormality of the eyelashes hallmark (90%) HP:0000499
9 short neck hallmark (90%) HP:0000470
10 wide nasal bridge hallmark (90%) HP:0000431
11 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
12 short philtrum hallmark (90%) HP:0000322
13 thin vermilion border hallmark (90%) HP:0000233
14 wide mouth hallmark (90%) HP:0000154
15 abnormality of the soft palate typical (50%) HP:0100736
16 cognitive impairment typical (50%) HP:0100543
17 camptodactyly of finger typical (50%) HP:0100490
18 abnormality of immune system physiology typical (50%) HP:0010978
19 clinodactyly of the 5th finger typical (50%) HP:0004209
20 malabsorption typical (50%) HP:0002024
21 constipation typical (50%) HP:0002019
22 intrauterine growth retardation typical (50%) HP:0001511
23 joint hypermobility typical (50%) HP:0001382
24 joint dislocation typical (50%) HP:0001373
25 brachydactyly syndrome typical (50%) HP:0001156
26 hypertrichosis typical (50%) HP:0000998
27 abnormality of the clavicle typical (50%) HP:0000889
28 deeply set eye typical (50%) HP:0000490
29 underdeveloped nasal alae typical (50%) HP:0000430
30 triangular face typical (50%) HP:0000325
31 hypoplasia of penis occasional (7.5%) HP:0008736
32 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
33 abnormality of the fingernails occasional (7.5%) HP:0001231
34 abnormality of the urethra occasional (7.5%) HP:0000795
35 telecanthus occasional (7.5%) HP:0000506
36 strabismus occasional (7.5%) HP:0000486
37 trigonocephaly occasional (7.5%) HP:0000243
38 varicocele rare (5%) HP:0012871
39 mesocardia rare (5%) HP:0011599
40 congenital posterior urethral valve rare (5%) HP:0010957
41 persistent left superior vena cava rare (5%) HP:0005301
42 coarctation of aorta rare (5%) HP:0001680
43 atria septal defect rare (5%) HP:0001631
44 umbilical hernia rare (5%) HP:0001537
45 hypermetropia rare (5%) HP:0000540
46 strabismus rare (5%) HP:0000486
47 conductive hearing impairment rare (5%) HP:0000405
48 recurrent otitis media rare (5%) HP:0000403
49 hydronephrosis rare (5%) HP:0000126
50 nephrocalcinosis rare (5%) HP:0000121
51 hypospadias rare (5%) HP:0000047
52 cryptorchidism rare (5%) HP:0000028
53 inguinal hernia rare (5%) HP:0000023
54 cone-shaped epiphyses of the phalanges of the hand HP:0010230
55 short stature HP:0004322
56 clinodactyly of the 5th finger HP:0004209
57 delayed skeletal maturation HP:0002750
58 downturned corners of mouth HP:0002714
59 celiac disease HP:0002608
60 expressive language delay HP:0002474
61 low posterior hairline HP:0002162
62 joint laxity HP:0001388
63 hirsutism HP:0001007
64 long eyelashes HP:0000527
65 deeply set eye HP:0000490
66 short neck HP:0000470
67 prominent nose HP:0000448
68 posteriorly rotated ears HP:0000358
69 triangular face HP:0000325
70 smooth philtrum HP:0000319
71 thin vermilion border HP:0000233
72 wide mouth HP:0000154

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 Syndrome22 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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MalaCards organs/tissues related to Floating-Harbor Syndrome:

33
Bone, Eye, Breast, Kidney, Monocytes, Pituitary, T cells

Animal Models for Floating-Harbor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Floating-Harbor Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Floating-Harbor Syndrome

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Articles related to Floating-Harbor Syndrome:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Floating Harbor Syndrome. (27206688)
2016
2
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. (27208210)
2016
3
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. (25433523)
2014
4
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (22965468)
2013
5
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (24375913)
2013
6
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. (23763483)
2013
7
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
8
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
9
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
10
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
11
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
12
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
13
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
14
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
15
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
16
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
17
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
18
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
19
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
2009
20
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
21
Floating-Harbor syndrome: case report. (18449141)
2008
22
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. (18978661)
2008
23
Precocious puberty in a girl with floating-harbor syndrome. (18341094)
2007
24
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. (17955782)
2007
25
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
2006
26
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
27
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. (15889416)
2005
28
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. (15378536)
2004
29
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
30
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. (15139957)
2004
31
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (14738118)
2003
32
A variant example of familial Floating-Harbor syndrome? (12725587)
2003
33
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. (11883867)
2002
34
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. (11746027)
2001
35
Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. (11995206)
2000
36
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
37
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
38
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
39
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
40
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
41
The floating harbor syndrome with cardiac septal defect. (8985491)
1996
42
Floating-Harbor syndrome. A neuropsychological approach. (8985732)
1996
43
Two more diagnostic signs in the Floating-Harbor syndrome. (8867666)
1996
44
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
45
Further observations on the Floating-Harbor syndrome. (8055134)
1994
46
Floating-Harbor Syndrome (23193612)
1993
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)single nucleotide variantPathogenicrs587777656GRCh38Chr 16, 30736616: 30736616
2SRCAPNM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter)single nucleotide variantPathogenicrs587784444GRCh37Chr 16, 30749354: 30749354
3SRCAPNM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter)single nucleotide variantPathogenicrs199469464GRCh37Chr 16, 30748691: 30748691
4SRCAPNM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter)single nucleotide variantPathogenicrs199469465GRCh37Chr 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:00165739.6CREBBP, SRCAP
2viral processGO:00160329.1CREBBP, SRCAP

Sources for Floating-Harbor Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet