Gene Summary

Name:
fatty acyl CoA reductase 2
Synonyms:
Mlstd1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Far2tm2b(KOMP)Wtsi HOM Early adult 3.41×10-11
abnormal lens morphology Far2tm2b(KOMP)Wtsi HOM   Early adult 5.62×10-05
increased fasting circulating glucose level Far2tm2b(KOMP)Wtsi HOM Early adult 4.66×10-12
decreased circulating cholesterol level Far2tm2b(KOMP)Wtsi HOM Early adult 8.05×10-11
decreased circulating HDL cholesterol level Far2tm2b(KOMP)Wtsi HOM Early adult 1.69×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Sleep Wake

Wake state (bmp file)

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Forepaw

12 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Eye Morphology

Images Slit Lamp

4 Images

Adult LacZ

LacZ Images Section

4 Images

Embryo LacZ

LacZ images wholemount

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Far2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Far2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... ORPHA:2722
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Candidiasis, Familial, 1
Alopecia OMIM:114580
L-Ferritin Deficiency
Alopecia OMIM:615604
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Decreased testicular size, Woolly hair OMIM:601217
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Kerion Celsi
Alopecia ORPHA:499
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Abnormal testis morphology, Pili torti, Aplasia/Hypoplasia of ... ORPHA:202
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis OMIM:176100
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Oliver-Mcfarlane Syndrome
Alopecia, Long eyelashes, Cryptorchidism, Decreased response to growth hormone stimulation test, ... OMIM:275400
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Developmental cataract, Decreased LDL cholesterol concentration OMIM:616834
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter, Nail dystrophy, Alopecia OMIM:618373
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... OMIM:610947
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... ORPHA:1882
Ethanolaminosis
Cardiomegaly OMIM:227150
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary OMIM:241090
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia OMIM:129540
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplas... OMIM:607823
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Abnormal testis morphology, Abnormality of the nail, Generali... ORPHA:317
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Alopecia, Abnormality of the nail ORPHA:494
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia OMIM:615704
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... ORPHA:2325
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair OMIM:614594
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia OMIM:618840
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Idiopathic Trachyonychia
Ridged nail, Circumungual hyperkeratosis, Thin nail, Nail dystrophy, Fingernail dysplasia, Fragil... ORPHA:79153
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... OMIM:612843
Alpha-Heavy Chain Disease
Alopecia, Premature ovarian insufficiency ORPHA:100025
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair OMIM:242300
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... ORPHA:2269
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Increased circulating cortisol level, A... OMIM:615830
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Atrichia, Cryptorchidism, Decreased testicular size, Congenital abnorma... ORPHA:1867
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertr... OMIM:612526
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Developmental cataract, Hypertrophic cardiomyopathy OMIM:618810
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Squalene Synthase Deficiency
Bicuspid aortic valve, Hypocholesterolemia, Increased circulating farnesol concentration, Elevate... OMIM:618156
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... ORPHA:2930
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia OMIM:618282
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair, Hydrocele testis ORPHA:69735
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:607765
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Abnormal... ORPHA:3051
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration OMIM:603776
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Hypomelanosis Of Ito
Alopecia OMIM:300337
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Alopecia, Abnormal hair morphology, Thin nail OMIM:242100
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia OMIM:164180
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Hypoparathyroidism, Increased circulating cortisol level, Alopecia, Abnormal... ORPHA:3453
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Abnormal heart morphology, Maturity-onset diabetes of the young... ORPHA:99886
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Onycholysis ORPHA:525
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... ORPHA:978
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia ORPHA:3143
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Posterior pituitary hypoplasia, Nail dystrophy, Brittle ha... ORPHA:75389
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia OMIM:144010
Potocki-Lupski Syndrome
Hypocholesterolemia, Atrial septal defect, Patent foramen ovale OMIM:610883
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Thick hair, Alopecia, Sparse hair OMIM:607626
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Trichotillomania
Alopecia OMIM:613229
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly, Decreased circula... OMIM:618838
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia OMIM:613451
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Bathing Suit Ichthyosis
Nail dystrophy, Alopecia, Sparse hair ORPHA:100976
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... OMIM:212140
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Left ventricular hypertrophy, Hepatosplenomegaly, ... ORPHA:31150
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Renpenning Syndrome
Alopecia, Abnormal hair laboratory examination, Thin eyebrow, Decreased testicular size ORPHA:3242
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... OMIM:600649
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Fragile nails OMIM:242150
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse hair, Decreased testicular size OMIM:147770
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Multiple Carboxylase Deficiency
Alopecia ORPHA:148
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia ORPHA:2316
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail OMIM:609638
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Alopecia, Onychogryposis ORPHA:79395
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hai... OMIM:137940
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Brittle hair, Alopecia, Abnormality of hair texture, Sparse hair OMIM:608612
Mandibulofacial Dysostosis With Alopecia
Sparse and thin eyebrow, Sparse eyelashes, Alopecia OMIM:616367
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... ORPHA:3253
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Ty... ORPHA:96180
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Mandibuloacral Dysplasia
Alopecia, Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:2457
Bresek Syndrome
Cryptorchidism, Alopecia, Decreased testicular size ORPHA:85284
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholestero... ORPHA:14
Rapp-Hodgkin Syndrome
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp... OMIM:129400
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apo... OMIM:207750
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Sparse hair, Alopecia ORPHA:659
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Sézary Syndrome
Nail dystrophy, Alopecia ORPHA:3162
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Satoyoshi Syndrome
Abnormality of the ovary, Abnormal hair morphology, Hypoplasia of the ovary, Sparse or absent eye... ORPHA:3130
Keutel Syndrome
Alopecia ORPHA:85202
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Hirsutism, Hyperlipidemia, Increased circulating cortisol level... ORPHA:189427
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Decreased testicular size, Cryptorchidism ORPHA:85279
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Holocarboxylase Synthetase Deficiency
Alopecia ORPHA:79242
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Pachyonychia Congenita
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Paronychia, Onychog... ORPHA:2309
Macs Syndrome
Sparse and thin eyebrow, Cryptorchidism, Sparse hair, Alopecia OMIM:613075
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Breast aplasia ORPHA:90153
Omenn Syndrome
Hypoplasia of the thymus, Alopecia OMIM:603554
Mandibuloacral Dysplasia With Type B Lipodystrophy
Nail dystrophy, Alopecia, Abnormal hair morphology, Hyperlipidemia ORPHA:90154
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericardial effusion, Hypocholesterolemia, Cardiomyopathy, Hypoalbuminemia OMIM:212065
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Nail dystrophy, Alopecia, Sparse hair, Premature graying of hair, Nail pits OMIM:127550
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Hemochromatosis, Type 1
Testicular atrophy, Alopecia OMIM:235200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Alopecia of scalp, Streak ovary, Alopecia, Abnormal eyebrow morphology, Sparse pubic hair, Increa... ORPHA:2232
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia OMIM:601853
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Alopecia, Polycystic ovaries, Abnormal testis morphology, Abnormal hair quantity, Testicu... ORPHA:457059
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Nail dystrophy, Alopecia, Cholelithiasis, Premature ovarian insufficiency, Al... OMIM:240300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Nail dystrophy, Alopecia, Alopecia totalis, Decreased response ... ORPHA:293978
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Cryptorchidism, Alopecia ORPHA:228390
Gapo Syndrome
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Alopecia, Sparse eyebrow, Nail dysplasia, Bre... OMIM:230740
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia OMIM:158310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Alopecia OMIM:175500
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Alopecia totalis, Trachyonychia OMIM:615577
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Hypocholesterolemia, Atrial septal defect, Astigmatism, Microcornea OMIM:244450
Ane Syndrome
Alopecia, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Decreased response to growth h... ORPHA:157954
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Alopecia, Nail dysplasia, Cryptorchidism, Premature graying of hair OMIM:613990
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Cryptorchidism ORPHA:166035
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hirsutism, Hyperlipidemia, Increased circulating cortisol level, Alopecia, P... ORPHA:189439
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Nail dysplasia, Cryptorchidism OMIM:308205
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Recurrent hypoglyc... ORPHA:79324
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Alopecia, Decreased testicular size ORPHA:453533
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia ORPHA:39041
Adrenoleukodystrophy
Alopecia OMIM:300100
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyelashes, Small nail, Alopecia, Absent eyebrow, Sparse eyebrow, Absent eyelashes, Bilater... ORPHA:544488
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Alopecia OMIM:226600
X-Linked Agammaglobulinemia
Alopecia ORPHA:47
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Cryptorchidism, Alopecia ORPHA:1647
Acrodermatitis Enteropathica
Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the nail, Paronychia, Ridged f... ORPHA:37
Woodhouse-Sakati Syndrome
Fine hair, Hyperlipidemia, Alopecia, Elevated circulating thyroid-stimulating hormone concentrati... OMIM:241080
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hyperparathyroidism ORPHA:93160
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Sparse hair ORPHA:974
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Hypercholesterolemia, Hypertriglyceridemia, Alopecia universali... ORPHA:363618
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyebrow, Absent eyelashes, Absen... ORPHA:158687
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia OMIM:302960
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Gapo Syndrome
Early balding, Sparse and thin eyebrow, Sparse eyelashes, Alopecia ORPHA:2067
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Hyperlipidemia OMIM:248370
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Anonychia, Sparse eyelashes, Nail dystrophy, Absent eyelashes, Hyperconvex nail, Patchy alopecia,... OMIM:106260
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Hirsutism, Alopecia, Polycystic ovaries, Decreased circulating cor... ORPHA:90795
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia ORPHA:169154
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Steatorrhea OMIM:269200
Alstrom Syndrome
Multinodular goiter, Decreased response to growth hormone stimulation test, Alopecia, Hypertrigly... OMIM:203800
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Abnormal circulating lipid c... ORPHA:2298
Rothmund-Thomson Syndrome, Type 2
Sparse eyelashes, Annular pancreas, Nail dystrophy, Alopecia, Sparse eyebrow, Absent eyebrow, Abs... OMIM:268400
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Hypertriglyceridemia ORPHA:98907
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
Progeria-Short Stature-Pigmented Nevi Syndrome
Low posterior hairline, Alopecia, Neoplasm of the pancreas, Premature ovarian insufficiency ORPHA:2959
H Syndrome
Hypertrichosis, Alopecia, Abnormal eyebrow morphology, Hypertriglyceridemia, Decreased testicular... ORPHA:168569
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Mogs-Cdg
Hirsutism, Alopecia, Long eyelashes, Fair hair, Hydrocele testis ORPHA:79330
Porphyria, Congenital Erythropoietic
Hypertrichosis, Alopecia, Absent eyebrow, Cholelithiasis, Loss of eyelashes OMIM:263700
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... OMIM:238600
Distal Monosomy 19P13.3
Alopecia, Thick eyebrow ORPHA:96129
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Alopecia OMIM:613001
Incontinentia Pigmenti
Broad nail, Abnormal hair morphology, Dystrophic toenail, Alopecia, Abnormal toenail morphology, ... ORPHA:464
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,... ORPHA:35173
Limb-Mammary Syndrome
Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilateral breast hypoplasia,... ORPHA:69085
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... OMIM:308300
Hallermann-Streiff Syndrome
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Cryptorchidism,... ORPHA:2108
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Cholelithiasis OMIM:618775
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Secondary hyperparathyroidism OMIM:277440
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
Biotinidase Deficiency
Alopecia OMIM:253260
Celiac Disease, Susceptibility To, 1
Alopecia, Steatorrhea OMIM:212750
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Patchy alopecia OMIM:606367
Mixed Connective Tissue Disease
Alopecia ORPHA:809
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Atrial septal defe... OMIM:270400
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Alopecia, Abnormality of the nail ORPHA:428
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Alopecia ORPHA:2612
Dyskeratosis Congenita
White hair, Nail dystrophy, Alopecia, Neoplasm of the pancreas, Abnormal eyebrow morphology, Abno... ORPHA:1775
Knobloch Syndrome 1
Alopecia OMIM:267750
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse scalp hair, Sparse and thin eyebrow OMIM:614008
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Alopecia, Abnormality of the nail OMIM:308050
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Giant Cell Arteritis
Alopecia ORPHA:397
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... OMIM:151660
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Decreased response to growth hormone stimulation test, Alopecia, Pr... ORPHA:3464
Leigh Syndrome
Frontal hirsutism, Hypertrichosis, Alopecia ORPHA:506
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Alopecia, Hypertriglyceridemia ORPHA:536532
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Orofaciodigital Syndrome I
Sparse hair, Ovarian cyst, Pancreatic cysts, Alopecia OMIM:311200
Colchicine Poisoning
Alopecia ORPHA:31824
Scleroderma
Alopecia ORPHA:801
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Alopecia, Onychogryposis ORPHA:79396
Biotinidase Deficiency
Alopecia ORPHA:79241
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Alopecia, Anterior pituitary dysgenesis ORPHA:227990
Rothmund-Thomson Syndrome
Small nail, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Nail dysplasia, Abnormality of th... ORPHA:2909
Bartsocas-Papas Syndrome 1
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Alopecia totalis, Bilateral cryptorchidis... OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Thick eyebrow, Cryptorchidism, Patchy alopecia, Decreased testicular size OMIM:300534
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Central diabetes insipidus, Alopecia, Anterior pituitary dysgenesis ORPHA:227982
Dyskeratosis Congenita, X-Linked
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Cryptorc... OMIM:305000
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Focal Dermal Hypoplasia
Alopecia, Abnormality of the nail ORPHA:2092
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Brittle hair, Coarse hair, Alopecia, Sparse hair ORPHA:2750
Systemic Sclerosis
Nail bed telangiectasia, Alopecia ORPHA:90291
Atypical Werner Syndrome
Ovarian neoplasm, Abnormal hair morphology, Alopecia, Abnormal hair quantity, White forelock, Abn... ORPHA:79474
Leprosy
Alopecia, Absent eyebrow, Testicular mass, Loss of eyelashes, Sparse body hair ORPHA:548
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Nail dysplasia, Premature ovarian insufficiency, Sparse or absent eyelashes, Cr... ORPHA:221008
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Alopecia ORPHA:37042
Adams-Oliver Syndrome 1
Small nail, Alopecia, Supernumerary nipple OMIM:100300
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal eyelash morphology ORPHA:2396
Behcet Syndrome
Patchy alopecia OMIM:109650
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:221016
Autosomal Dominant Robinow Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Curly eyelashes, Long eyelashes, Alopecia, Ri... ORPHA:3107
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Thin fingernail, Abnormal hair morphology, Thin eyebrow, Alopecia, Absent eyebrow, Hyperconvex fi... ORPHA:2273
Xeroderma Pigmentosum
Cryptorchidism, Alopecia, Decreased testicular size ORPHA:910
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Nail dystrophy, Sparse hair ORPHA:158668
Autosomal Recessive Robinow Syndrome
Fingernail dysplasia, Cryptorchidism, Alopecia, Long eyelashes ORPHA:1507
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Decreased testicular size, Hypoplasia of the ovary OMIM:619321
Koolen-De Vries Syndrome Due To A Point Mutation
Pineal cyst, Decreased response to growth hormone stimulation test, Alopecia, Cryptorchidism, Fai... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pineal cyst, Decreased response to growth hormone stimulation test, Alopecia, Cryptorchidism, Fai... ORPHA:363958
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Alopecia, Abnormality of the nail, Paronychia, Anonychia ORPHA:79404
Steinert Myotonic Dystrophy
Testicular atrophy, Early balding, Alopecia, Secondary hyperparathyroidism, Cholelithiasis, Hyper... ORPHA:273
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Thin eyebrow, Alopecia, Loss of eyelashes, Cryptorchidism, Sparse hair ORPHA:2636
Relapsing Polychondritis
Alopecia ORPHA:728
Localized Scleroderma
Patchy alopecia, Abnormality of skin adnexa morphology ORPHA:90289
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder ORPHA:96176
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... ORPHA:99228
Monosomy X
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... ORPHA:99226
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Truncus arteriosus, Hyperglycemia, Hypoplastic tricuspid valve, Double... OMIM:600001
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Alopecia ORPHA:50918
Chronic Graft Versus Host Disease
Nail dystrophy, Alopecia, Onycholysis ORPHA:99921
African Trypanosomiasis
Abnormal prolactin level, Alopecia, Abnormality of circulating cortisol level ORPHA:3385
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Dystrophic toenail, Alopecia totalis, Absent eyebrow, Loss of eyelashes, ... ORPHA:740
Focal Dermal Hypoplasia
Hypoplastic nipples, Absent toenail, Nail dystrophy, Brittle hair, Abnormality of hair texture, N... OMIM:305600
Sarcoidosis
Enlargement of parotid gland, Alopecia, Enlarged lacrimal glands, Parotitis ORPHA:797
Viss Syndrome
Sparse scalp hair, Alopecia, Hirsutism OMIM:619472
Pallister-Killian Syndrome
Sparse eyelashes, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse anterior scalp hair, Sparse... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Abnorma... ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Far2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Far2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Meibomian Gland Dysfunction: What Have Animal Models Taught Us? International journal of molecular sciences (November 2020) Far2tm2b(KOMP)Wtsi PMC7700490
Detection and Classification of Novel Renal Histologic Phenotypes Using Deep Neural Networks. The American journal of pathology (June 2019) Far2tm2a(KOMP)Wtsi 31220455
Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia. PloS one (October 2018) Far2tm1(KOMP)Wtsi Far2tm2b(KOMP)Wtsi PMC6205590
FAR2 is associated with kidney disease in mice and humans. Physiological genomics (April 2018) Far2tm2a(KOMP)Wtsi 29652635
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Far2tm2b(KOMP)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Far2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Far2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Far2tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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