FLHS
MCID: FLT006
MIFTS: 42

Floating-Harbor Syndrome (FLHS) 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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 52 23 48 24 25 54 70 27 12 68
Pelletier-Leisti Syndrome 48 25
Flhs 25 70
 
Fhs 48 25
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 48
Leisti-Hollander-Rimoin Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
floating-harbor syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 136140
Orphanet54 ORPHA2044
MESH via Orphanet40 C537062
UMLS via Orphanet69 C0729582
ICD10 via Orphanet31 Q87.8
MedGen37 C0729582
MeSH39 D000015

Summaries for Floating-Harbor Syndrome

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NIH Rare Diseases:48 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 joint laxity, joint laxity and Array. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways is Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone, eye and heart, and related mouse phenotype Negative genetic interaction between MUS81-/- and MUS81+/+.

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

UniProtKB/Swiss-Prot:70 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:71 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with... 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 & Phenotypes 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:

 54 64 (show all 68)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth64 54 Very frequent (99-80%) HP:0000154
2 thin vermilion border64 54 Very frequent (99-80%) HP:0000233
3 trigonocephaly64 54 Occasional (29-5%) HP:0000243
4 short philtrum64 54 Very frequent (99-80%) HP:0000322
5 triangular face64 54 Frequent (79-30%) HP:0000325
6 posteriorly rotated ears64 54 Very frequent (99-80%) HP:0000358
7 recurrent otitis media64 54 Frequent (79-30%) HP:0000403
8 bulbous nose64 54 Very frequent (99-80%) HP:0000414
9 underdeveloped nasal alae64 54 Frequent (79-30%) HP:0000430
10 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
11 prominent nose64 54 Very frequent (99-80%) HP:0000448
12 short neck64 54 Very frequent (99-80%) HP:0000470
13 strabismus64 54 Occasional (29-5%) HP:0000486
14 deeply set eye64 54 Frequent (79-30%) HP:0000490
15 telecanthus64 54 Occasional (29-5%) HP:0000506
16 long eyelashes64 54 Very frequent (99-80%) HP:0000527
17 abnormality of the clavicle54 Frequent (79-30%)
18 short clavicles64 54 Frequent (79-30%) HP:0000894
19 brachydactyly syndrome64 54 Frequent (79-30%) HP:0001156
20 abnormality of the fingernails64 54 Occasional (29-5%) HP:0001231
21 intellectual disability64 54 Frequent (79-30%) HP:0001249
22 global developmental delay64 54 Frequent (79-30%) HP:0001263
23 joint stiffness64 54 Very frequent (99-80%) HP:0001387
24 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
25 abnormality of the voice54 Very frequent (99-80%)
26 nasal speech64 54 Very frequent (99-80%) HP:0001611
27 high pitched voice64 54 Very frequent (99-80%) HP:0001620
28 constipation64 54 Frequent (79-30%) HP:0002019
29 malabsorption64 54 Frequent (79-30%) HP:0002024
30 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
31 generalized hirsutism64 54 Frequent (79-30%) HP:0002230
32 expressive language delay64 54 Very frequent (99-80%) HP:0002474
33 malformation of the heart and great vessels54 Occasional (29-5%)
34 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
35 enlarged joints64 54 Frequent (79-30%) HP:0003037
36 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
37 short stature64 54 Very frequent (99-80%) HP:0004322
38 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
39 congenital pseudoarthrosis of the clavicle64 54 Frequent (79-30%) HP:0006585
40 generalized cerebral atrophy/hypoplasia64 54 Occasional (29-5%) HP:0007058
41 hypoplasia of penis64 54 Occasional (29-5%) HP:0008736
42 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
43 broad columella64 54 Very frequent (99-80%) HP:0010761
44 congenital posterior urethral valve64 54 Occasional (29-5%) HP:0010957
45 broad thumb64 54 Very frequent (99-80%) HP:0011304
46 camptodactyly of finger64 54 Frequent (79-30%) HP:0100490
47 abnormality of the soft palate64 54 Frequent (79-30%) HP:0100736
48 inguinal hernia64 HP:0000023
49 cryptorchidism64 HP:0000028
50 hypospadias64 HP:0000047
51 nephrocalcinosis64 HP:0000121
52 hydronephrosis64 HP:0000126
53 smooth philtrum64 HP:0000319
54 conductive hearing impairment64 HP:0000405
55 hypermetropia64 HP:0000540
56 hirsutism64 HP:0001007
57 joint laxity64 HP:0001388
58 umbilical hernia64 HP:0001537
59 atrial septal defect64 HP:0001631
60 coarctation of aorta64 HP:0001680
61 low posterior hairline64 HP:0002162
62 celiac disease64 HP:0002608
63 downturned corners of mouth64 HP:0002714
64 persistent left superior vena cava64 HP:0005301
65 cone-shaped epiphyses of the phalanges of the hand64 HP:0010230
66 mesocardia64 HP:0011599
67 varicocele64 HP:0012871
68 abnormality of cardiovascular system morphology64 HP:0030680

UMLS symptoms related to Floating-Harbor Syndrome:


joint laxity

GenomeRNAi Phenotypes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00255-A-29.1CREBBP, SRCAP

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 Syndrome27 24 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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MalaCards organs/tissues related to Floating-Harbor Syndrome:

36
Bone, Eye, Heart, Kidney, Spinal cord

Publications for Floating-Harbor Syndrome

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Articles related to Floating-Harbor Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Floating Harbor Syndrome. (27206688)
2016
2
Chiari I malformation as part of the Floating-Harbor syndrome? (27815143)
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
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (24375913)
2013
7
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. (23763483)
2013
8
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (22965468)
2013
9
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. (23621943)
2013
10
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. (21955542)
2012
11
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (22265015)
2012
12
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. (22570979)
2012
13
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. (22263687)
2012
14
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. (23165645)
2012
15
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. (22247066)
2012
16
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. (22001135)
2011
17
The phenotype of Floating-Harbor syndrome in 10 patients. (20358590)
2010
18
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. (20185146)
2010
19
Floating-Harbor syndrome associated with middle ear abnormalities. (20014123)
2010
20
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
21
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. (19764022)
2009
22
Ocular abnormalities in Floating-Harbor syndrome. (19393524)
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
Floating-Harbor syndrome: a first female Turkish patient? (17375535)
2006
28
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. (16523514)
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
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (14738118)
2003
34
A variant example of familial Floating-Harbor syndrome? (12725587)
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
Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. (11995206)
2000
38
Changing phenotype in Floating-Harbor syndrome. (9508066)
1998
39
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. (9892052)
1998
40
Floating Harbor syndrome. Case report and further syndrome delineation. (9401100)
1997
41
The Floating-Harbor syndrome: two affected siblings in a family. (9001802)
1996
42
Floating-Harbor syndrome. A neuropsychological approach. (8985732)
1996
43
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (8831134)
1996
44
Two more diagnostic signs in the Floating-Harbor syndrome. (8867666)
1996
45
The floating harbor syndrome with cardiac septal defect. (8985491)
1996
46
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. (7588969)
1995
47
Further observations on the Floating-Harbor syndrome. (8055134)
1994
48
Floating-Harbor Syndrome (23193612)
1993
49
Floating-Harbor syndrome and celiac disease. (2063899)
1991
50
Floating-Harbor syndrome. (2051457)
1991

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

idSuper pathwaysScoreTop Affiliating Genes
19.1CREBBP, SRCAP

GO Terms for genes affiliated with Floating-Harbor Syndrome

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Cellular components related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:00166049.1CREBBP, SRCAP

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

idNameGO IDScoreTop Affiliating Genes
1histone acetylationGO:00165739.8CREBBP, 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:00044029.7CREBBP, SRCAP
2transcription coactivator activityGO:00037139.1CREBBP, SRCAP

Sources for Floating-Harbor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet