Obesity, and Hypopigmentation of the skin

Diseases related with Obesity and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Obesity and Hypopigmentation of the skin that can help you solving undiagnosed cases.


Top matches:

Low match OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY


Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

Low match OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY


Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.

OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY Is also known as obesity and endocrinopathy due to impaired processing of prohormones|pci deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY

Low match HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME


Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

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Other less relevant matches:

Low match ABCD SYNDROME; ABCDS


ABCD SYNDROME; ABCDS Is also known as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness

Related symptoms:

  • Hearing impairment
  • Hypopigmentation of the skin
  • Aganglionic megacolon
  • Albinism
  • Large for gestational age


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ABCD SYNDROME; ABCDS

Low match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Low match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Low match ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2


Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see {179850}) (Zhou et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see {142690}.

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperkeratosis
  • Carcinoma
  • Scarring


SOURCES: OMIM MENDELIAN

More info about ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Obesity and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Obesity and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Acanthosis nigricans Upslanted palpebral fissure Increased body weight Papule Red hair Delayed puberty Microcephaly Polyphagia Short stature Global developmental delay Delayed skeletal maturation Failure to thrive

Rare Symptoms - Less than 30% cases


Inguinal hernia Constipation Deeply set eye Autism Gastroesophageal reflux Anxiety Feeding difficulties in infancy Absent speech Muscular hypotonia Behavioral abnormality Vomiting Optic atrophy Macrocephaly Fever Hypermetropia Abnormal facial shape Sensorineural hearing impairment Strabismus Hypertelorism Generalized hypotonia Albinism Wide mouth Dry skin Atrial septal defect Precocious puberty Intellectual disability, mild Downslanted palpebral fissures Intrauterine growth retardation Wide nasal bridge Low-set ears Micrognathia Hypospadias Patent ductus arteriosus Attention deficit hyperactivity disorder Prominent nasal bridge Joint hyperflexibility Bipolar affective disorder Epidermal acanthosis Acne Cafe-au-lait spot Stroke Carcinoma Myalgia Hypopigmented skin patches Laryngomalacia Nasal speech Neoplasm Hirsutism Malar flattening Short neck Blue irides Aganglionic megacolon Abnormality of the dentition Hypoglycemic seizures Cholestasis Muscle weakness Gonadotropin deficiency Hyperinsulinemia Dyspnea Decreased circulating cortisol level Nail dysplasia Fine hair Pituitary hypothyroidism Childhood-onset truncal obesity Cataract Growth hormone deficiency Weight loss Hypoglycemia Truncal obesity Hepatomegaly Increased adipose tissue Central adrenal insufficiency Hypothyroidism Disproportionate short stature Slender long bone Tibial bowing Narrow palpebral fissure Limited elbow extension Flared metaphysis Aplasia/Hypoplasia of the eyebrow High pitched voice Reduced number of teeth Short middle phalanx of finger Arrhinencephaly Multiple cafe-au-lait spots Cone-shaped epiphysis Abnormality of dental morphology Abnormality of the thorax Proportionate short stature Aplasia/Hypoplasia of the earlobes Abnormal aortic valve morphology Narrow pelvis bone Abnormality of the pharynx Abnormality of female external genitalia Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Arterial stenosis Abnormality of the cerebral vasculature Dilatation of the cerebral artery Short 1st metacarpal Small earlobe Hypoplastic scapulae Platybasia Tracheal stenosis Increased intraocular pressure Radial bowing Severe postnatal growth retardation Severe intrauterine growth retardation Hypoplastic iliac wing Hemiparesis Coxa vara Retrognathia Hypertensive crisis Narrow chest Microtia Abnormal aortic arch morphology Postnatal growth retardation Joint laxity Skeletal dysplasia High forehead Abnormality of skin pigmentation Severe short stature Recurrent respiratory infections Clinodactyly of the 5th finger Multiple suture craniosynostosis Dilatation Headache Tricuspid atresia Abnormality of the tonsils Micromelia Short distal phalanx of finger Impaired T cell function Anorectal anomaly Coxa valga Abnormality of epiphysis morphology Hypoplasia of dental enamel Abnormality of the metaphysis Pseudoepiphyses Sparse scalp hair Type II diabetes mellitus Abnormal pulmonary valve morphology Sloping forehead Full cheeks Limb undergrowth Microdontia Hip dysplasia Convex nasal ridge Underdeveloped nasal alae Prominent nose Retinal arteriolar tortuosity Delayed myelination Large sella turcica Thin clavicles Forearm undergrowth Arachnodactyly Multiple renal cysts Vesicoureteral reflux Asthma Abnormality of the skull Meningocele Bulbous nose Long face Truncus arteriosus Anal atresia Hypoparathyroidism Carious teeth Short philtrum Abnormal eyelid morphology Autoimmunity Varicose veins Telecanthus Atelectasis Chronic obstructive pulmonary disease Abnormality of the uterus Patellar dislocation Intestinal malrotation Corneal neovascularization Dysphasia Cholelithiasis Polycystic kidney dysplasia Schizophrenia Purpura Overfolded helix Chronic otitis media Abnormality of dental enamel Hypocalcemia Spina bifida Bowel incontinence Gastrointestinal hemorrhage Hyperthyroidism Foot polydactyly Choanal atresia Renal hypoplasia Posterior embryotoxon Abnormal lung lobation Turricephaly Tetralogy of Fallot Specific learning disability Arthritis Conductive hearing impairment Pseudoepiphyses of the metacarpals Overtubulated long bones Follicular hyperkeratosis Atrophic scars Squamous cell carcinoma Seborrheic dermatitis Scarring Hyperkeratosis Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Rootless teeth Alveolar process hypoplasia Abnormal thrombocyte morphology Recurrent cutaneous abscess formation Generalized microdontia Straight clavicles Ivory epiphyses Projectile vomiting High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Hand polydactyly Distal symphalangism Reticular hyperpigmentation Acne inversa Tetany Long philtrum Umbilical hernia Polyhydramnios Narrow mouth Glaucoma Depressivity Thrombocytopenia Hypoplasia of the thymus Microphthalmia Immunodeficiency Splenomegaly Chronic furunculosis Hydrocephalus Talipes equinovarus Ventricular septal defect Epicanthus Ptosis Cryptorchidism Cleft palate Macular hyperpigmentation Perifolliculitis Abnormality of cardiovascular system morphology Sarcoma Hypoplasia of the corpus callosum Brachycephaly Abnormality of movement Neurological speech impairment Autistic behavior EEG abnormality Mandibular prognathia Gait ataxia Cerebral cortical atrophy Hyperactivity Encephalopathy Astigmatism Kyphosis Cerebellar atrophy Intellectual disability, severe Myopia Hyperreflexia Motor delay Feeding difficulties Nystagmus Ataxia Infertility Falls Hypopigmentation of the fundus Abnormality of the face Incoordination Hyperkinesis Drooling Cerebral palsy Widely spaced teeth Intellectual disability, progressive Aspiration Exotropia Postnatal microcephaly Clumsiness Sleep disturbance Broad-based gait Status epilepticus Intellectual disability, profound Generalized-onset seizure Overgrowth Focal-onset seizure Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Abnormal auditory evoked potentials Large for gestational age Flat occiput Diarrhea Glucose intolerance Polyuria Polydipsia Hypogonadotrophic hypogonadism Primary amenorrhea Amenorrhea Malabsorption Diabetes mellitus Hypogonadism Abnormal eating behavior Maternal diabetes Adrenocorticotropic hormone deficiency Adrenal hypoplasia Neonatal hypoglycemia Adrenal insufficiency Hyponatremia Hyperbilirubinemia Hepatic failure Acidosis Agenesis of corpus callosum Diabetes insipidus Villous atrophy Mottled pigmentation Hypohidrosis Erysipelas Thin eyebrow Poikiloderma Heat intolerance Achilles tendon contracture Raynaud phenomenon Scleroderma Pulmonary fibrosis Clubbing Telangiectasia Hypothalamic hypothyroidism Hyperhidrosis Pneumonia Alopecia Elevated serum creatine phosphokinase Myopathy Gait disturbance Skeletal muscle atrophy Flexion contracture Reactive hypoglycemia Self-injurious behavior Keratoconus Ventriculomegaly Gynecomastia Striae distensae Freckling Macule Neurofibromas Hypermelanotic macule Heart murmur Ischemic stroke Hemangioma Tall stature Increased circulating cortisol level Palpitations Abnormality of the skin Nevus Confusion Abnormality of the eye Proximal muscle weakness Osteoporosis Congestive heart failure Respiratory distress Growth hormone excess Macroorchidism Hypertension Follicular thyroid carcinoma Abnormality of the skeletal system Brachydactyly Anemia Cutaneous myxoma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Profuse pigmented skin lesions Cardiac myxoma Uterine leiomyoma Follicular hyperplasia Pituitary adenoma Testicular neoplasm Pituitary prolactin cell adenoma Fibroma Multiple lentigines Schwannoma Paraganglioma Pheochromocytoma Thyroid carcinoma Generalized hypopigmentation Fatigue Pain Atonic seizures Limb tremor Micropenis Midface retrusion Depressed nasal bridge Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Happy demeanor Pes planus Moderate global developmental delay Profound global developmental delay Short attention span Fair hair Progressive gait ataxia Epileptic spasms Overweight Drowsiness Protruding tongue Macrotia Aggressive behavior Hypointensity of cerebral white matter on MRI Broad hallux Regional abnormality of skin Almond-shaped palpebral fissure Abnormal hair whorl Spotty hypopigmentation Broad face Echolalia Broad neck Acute myeloid leukemia Myeloid leukemia Prominent supraorbital ridges Leukemia Generalized hirsutism Low posterior hairline Wide intermamillary distance Short foot Downturned corners of mouth Thin vermilion border Poor speech Synophrys Nail dystrophy Occipital myelomeningocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Microdontia, related diseases and genetic alterations Myopathy and Broad forehead, related diseases and genetic alterations Low-set ears and Generalized seizures, related diseases and genetic alterations

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